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Andrea Ballabio - Publications

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Year Citation  Score
2022 Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Luis Medina D, Spampanato C, Olind Fedele A, Polishchuk R, Sorrentino NC, Simons K, Ballabio A. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. The Embo Journal. e112402. PMID 36321514 DOI: 10.15252/embj.2022112402  0.64
2021 De Risi M, Tufano M, Alvino FG, Ferraro MG, Torromino G, Gigante Y, Monfregola J, Marrocco E, Pulcrano S, Tunisi L, Lubrano C, Papy-Garcia D, Tuchman Y, Salleo A, Santoro F, ... ... Ballabio A, et al. Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders. Nature Communications. 12: 3495. PMID 34108486 DOI: 10.1038/s41467-021-23903-5  0.668
2021 Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, ... ... Ballabio A, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition). Autophagy. 1-382. PMID 33634751 DOI: 10.1080/15548627.2020.1797280  0.769
2020 Trivedi PC, Bartlett JJ, Mercer A, Slade L, Surette M, Ballabio A, Flibotte S, Hussein B, Rodrigues B, Kienesberger PC, Pulinilkunnil T. Loss of function of transcription factor EB remodels lipid metabolism and cell death pathways in the cardiomyocyte. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165832. PMID 32437957 DOI: 10.1016/J.Bbadis.2020.165832  0.343
2020 Peixoto E, Jin S, Thelen K, Biswas A, Richard S, Morleo M, Mansini A, Holtorf S, Carbone F, Pastore N, Ballabio A, Franco B, Gradilone SA. HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models. American Journal of Physiology. Gastrointestinal and Liver Physiology. PMID 32338033 DOI: 10.1152/Ajpgi.00033.2020  0.335
2019 Kobayashi T, Piao W, Takamura T, Kori H, Miyachi H, Kitano S, Iwamoto Y, Yamada M, Imayoshi I, Shioda S, Ballabio A, Kageyama R. Enhanced lysosomal degradation maintains the quiescent state of neural stem cells. Nature Communications. 10: 5446. PMID 31784517 DOI: 10.1038/S41467-019-13203-4  0.309
2019 Ballabio A, Bonifacino JS. Lysosomes as dynamic regulators of cell and organismal homeostasis. Nature Reviews. Molecular Cell Biology. PMID 31768005 DOI: 10.1038/S41580-019-0185-4  0.365
2019 De Cegli R, Iacobacci S, Fedele A, Ballabio A, di Bernardo D. A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells. Scientific Data. 6: 262. PMID 31695049 DOI: 10.1038/S41597-019-0281-5  0.386
2019 Curnock R, Calcagni A, Ballabio A, Cullen PJ. TFEB controls retromer expression in response to nutrient availability. The Journal of Cell Biology. PMID 31694921 DOI: 10.1083/Jcb.201903006  0.314
2019 Zhang H, Alsaleh G, Feltham J, Sun Y, Napolitano G, Riffelmacher T, Charles P, Frau L, Hublitz P, Yu Z, Mohammed S, Ballabio A, Balabanov S, Mellor J, Simon AK. Polyamines Control eIF5A Hypusination, TFEB Translation, and Autophagy to Reverse B Cell Senescence. Molecular Cell. PMID 31474573 DOI: 10.1016/J.Molcel.2019.08.005  0.304
2019 Pastore N, Ballabio A. Keeping the autophagy tempo. Autophagy. 1-3. PMID 31318631 DOI: 10.1080/15548627.2019.1645545  0.319
2019 Pastore N, Vainshtein A, Herz NJ, Huynh T, Brunetti L, Klisch TJ, Mutarelli M, Annunziata P, Kinouchi K, Brunetti-Pierri N, Sassone-Corsi P, Ballabio A. Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock. The Embo Journal. PMID 31126958 DOI: 10.15252/Embj.2018101347  0.367
2019 Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM. The lysosomal disease caused by mutant VPS33A. Human Molecular Genetics. PMID 31070736 DOI: 10.1093/Hmg/Ddz077  0.388
2019 Wang S, Ni HM, Chao X, Wang H, Bridges B, Kumer S, Schmitt T, Mareninova O, Gukovskaya A, De Lisle RC, Ballabio A, Pacher P, Ding WX. Impaired TFEB-Mediated Lysosomal Biogenesis Promotes the Development of Pancreatitis in Mice and Is Associated with Human Pancreatitis. Autophagy. PMID 30894069 DOI: 10.1080/15548627.2019.1596486  0.31
2018 Doronzo G, Astanina E, Corà D, Chiabotto G, Comunanza V, Noghero A, Neri F, Puliafito A, Primo L, Spampanato C, Settembre C, Ballabio A, Camussi G, Oliviero S, Bussolino F. TFEB controls vascular development by regulating the proliferation of endothelial cells. The Embo Journal. PMID 30591554 DOI: 10.15252/Embj.201798250  0.315
2018 Kinouchi K, Magnan C, Ceglia N, Liu Y, Cervantes M, Pastore N, Huynh T, Ballabio A, Baldi P, Masri S, Sassone-Corsi P. Fasting Imparts a Switch to Alternative Daily Pathways in Liver and Muscle. Cell Reports. 25: 3299-3314.e6. PMID 30566858 DOI: 10.1016/J.Celrep.2018.11.077  0.32
2018 Ambrosio S, Ballabio A, Majello B. Histone methyl-transferases and demethylases in the autophagy regulatory network: the emerging role of KDM1A/LSD1 demethylase. Autophagy. PMID 30208749 DOI: 10.1080/15548627.2018.1520546  0.348
2018 Nnah IC, Wang B, Saqcena C, Weber GF, Bonder EM, Bagley D, De Cegli R, Napolitano G, Medina DL, Ballabio A, Dobrowolski R. TFEB-driven endocytosis coordinates MTORC1 signaling and autophagy. Autophagy. PMID 30145926 DOI: 10.1080/15548627.2018.1511504  0.364
2018 Napolitano G, Esposito A, Choi H, Matarese M, Benedetti V, Di Malta C, Monfregola J, Medina DL, Lippincott-Schwartz J, Ballabio A. mTOR-dependent phosphorylation controls TFEB nuclear export. Nature Communications. 9: 3312. PMID 30120233 DOI: 10.1038/S41467-018-05862-6  0.307
2018 Puertollano R, Ferguson SM, Brugarolas J, Ballabio A. The complex relationship between TFEB transcription factor phosphorylation and subcellular localization. The Embo Journal. PMID 29764979 DOI: 10.15252/Embj.201798804  0.336
2018 Torra A, Parent A, Cuadros T, Rodríguez-Galván B, Ruiz-Bronchal E, Ballabio A, Bortolozzi A, Vila M, Bové J. Overexpression of TFEB Drives a Pleiotropic Neurotrophic Effect and Prevents Parkinson's Disease-Related Neurodegeneration. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 29628303 DOI: 10.1016/J.Ymthe.2018.02.022  0.342
2018 Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, et al. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Molecular Genetics and Metabolism. PMID 29397290 DOI: 10.1016/J.Ymgme.2018.01.005  0.3
2017 Bartolomeo R, Cinque L, De Leonibus C, Forrester A, Salzano AC, Monfregola J, De Gennaro E, Nusco E, Azario I, Lanzara C, Serafini M, Levine B, Ballabio A, Settembre C. mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy. The Journal of Clinical Investigation. PMID 28872463 DOI: 10.1172/Jci94130  0.34
2017 Sha Y, Rao L, Settembre C, Ballabio A, Eissa NT. STUB1 regulates TFEB-induced autophagy-lysosome pathway. The Embo Journal. PMID 28754656 DOI: 10.15252/Embj.201796699  0.364
2017 Di Malta C, Siciliano D, Calcagni A, Monfregola J, Punzi S, Pastore N, Eastes AN, Davis O, De Cegli R, Zampelli A, Di Giovannantonio LG, Nusco E, Platt N, Guida A, Ogmundsdottir MH, ... ... Ballabio A, et al. Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth. Science (New York, N.Y.). 356: 1188-1192. PMID 28619945 DOI: 10.1126/Science.Aag2553  0.336
2017 Sergin I, Evans TD, Zhang X, Bhattacharya S, Stokes CJ, Song E, Ali S, Dehestani B, Holloway KB, Micevych PS, Javaheri A, Crowley JR, Ballabio A, Schilling JD, Epelman S, et al. Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis. Nature Communications. 8: 15750. PMID 28589926 DOI: 10.1038/Ncomms15750  0.308
2017 Di Fruscio G, Banfi S, Nigro V, Ballabio A. Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex. Methods in Molecular Biology (Clifton, N.J.). 1594: 227-241. PMID 28456987 DOI: 10.1007/978-1-4939-6934-0_15  0.356
2017 Pastore N, Vainshtein A, Klisch TJ, Armani A, Huynh T, Herz NJ, Polishchuk EV, Sandri M, Ballabio A. TFE3 regulates whole-body energy metabolism in cooperation with TFEB. Embo Molecular Medicine. PMID 28283651 DOI: 10.15252/Emmm.201607204  0.3
2017 Pastore N, Attanasio S, Granese B, Teckman J, Wilson AA, Ballabio A, Brunetti-Pierri AN. Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin. Hepatology (Baltimore, Md.). PMID 28073160 DOI: 10.1002/Hep.29035  0.326
2016 Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP. Sulfatase activities are regulated by the interaction of the sulfatase-modifying factor 1 with SUMF2. Embo Reports. 17: 1901. PMID 27909074 DOI: 10.15252/embr.201570010  0.644
2016 Calcagnì A, Kors L, Verschuren E, De Cegli R, Zampelli N, Nusco E, Confalonieri S, Bertalot G, Pece S, Settembre C, Malouf GG, Leemans JC, de Heer E, Salvatore M, Peters DJ, ... ... Ballabio A, et al. Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling. Elife. 5. PMID 27668431 DOI: 10.7554/Elife.17047  0.3
2016 De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, di Bernardo D, ... ... Ballabio A, et al. Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nature Cell Biology. PMID 27398910 DOI: 10.1038/Ncb3386  0.34
2016 Napolitano G, Ballabio A. TFEB at a glance. Journal of Cell Science. 129: 2475-81. PMID 27252382 DOI: 10.1242/Jcs.146365  0.399
2016 Song JX, Sun YR, Peluso I, Zeng Y, Yu X, Lu JH, Xu Z, Wang MZ, Liu LF, Huang YY, Chen LL, Durairajan SS, Zhang HJ, Zhou B, Zhang HQ, ... ... Ballabio A, et al. A novel curcumin analog binds to and activates TFEB in vitro and in vivo independent of MTOR inhibition. Autophagy. 0. PMID 27172265 DOI: 10.1080/15548627.2016.1179404  0.349
2016 Rega LR, Polishchuk E, Montefusco S, Napolitano G, Tozzi G, Zhang J, Bellomo F, Taranta A, Pastore A, Polishchuk R, Piemonte F, Medina DL, Catz SD, Ballabio A, Emma F. Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney International. 89: 862-873. PMID 26994576 DOI: 10.1016/J.Kint.2015.12.045  0.377
2016 Martini-Stoica H, Xu Y, Ballabio A, Zheng H. The Autophagy-Lysosomal Pathway in Neurodegeneration: A TFEB Perspective. Trends in Neurosciences. PMID 26968346 DOI: 10.1016/J.Tins.2016.02.002  0.32
2016 Reddy K, Cusack CL, Nnah IC, Khayati K, Saqcena C, Huynh TB, Noggle SA, Ballabio A, Dobrowolski R. Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. Cell Reports. PMID 26923592 DOI: 10.1016/J.Celrep.2016.02.006  0.319
2016 Klionsky DJ, Abdelmohsen K, Abe A, Abedin J, Abeliovich H, Arozena AA, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, ... ... Ballabio A, et al. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356 Autophagy. 12: 443-443. PMID 26902590 DOI: 10.1080/15548627.2016.1147886  0.741
2016 Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, ... ... Ballabio A, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 12: 1-222. PMID 26799652 DOI: 10.1080/15548627.2015.1100356  0.779
2016 Ballabio A. The awesome lysosome. Embo Molecular Medicine. 8: 73-6. PMID 26787653 DOI: 10.15252/Emmm.201505966  0.37
2016 Bouché V, Perez Espinosa A, Leone L, Sardiello M, Ballabio A, Botas J. Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway. Autophagy. 0. PMID 26761346 DOI: 10.1080/15548627.2015.1134081  0.713
2015 Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A. Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy. 11: 928-38. PMID 26075876 DOI: 10.1080/15548627.2015.1043077  0.394
2015 Lapierre LR, Kumsta C, Sandri M, Ballabio A, Hansen M. Transcriptional and epigenetic regulation of autophagy in aging. Autophagy. 11: 867-80. PMID 25836756 DOI: 10.1080/15548627.2015.1034410  0.347
2015 Medina DL, Di Paola S, Peluso I, Armani A, De Stefani D, Venditti R, Montefusco S, Scotto-Rosato A, Prezioso C, Forrester A, Settembre C, Wang W, Gao Q, Xu H, Sandri M, ... ... Ballabio A, et al. Lysosomal calcium signalling regulates autophagy through calcineurin and ​TFEB. Nature Cell Biology. 17: 288-99. PMID 25720963 DOI: 10.1038/Ncb3114  0.327
2014 Frankel LB, Di Malta C, Wen J, Eskelinen EL, Ballabio A, Lund AH. A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder. Nature Communications. 5: 5840. PMID 25524633 DOI: 10.1038/Ncomms6840  0.387
2014 Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, ... ... Ballabio A, et al. Multiple sulfatase deficiency with neonatal manifestation. Italian Journal of Pediatrics. 40: 86. PMID 25516103 DOI: 10.1186/S13052-014-0086-2  0.31
2014 Settembre C, Ballabio A. Cell metabolism: autophagy transcribed. Nature. 516: 40-1. PMID 25383529 DOI: 10.1038/Nature13939  0.339
2014 Polito VA, Li H, Martini-Stoica H, Wang B, Yang L, Xu Y, Swartzlander DB, Palmieri M, di Ronza A, Lee VM, Sardiello M, Ballabio A, Zheng H. Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB. Embo Molecular Medicine. 6: 1142-60. PMID 25069841 DOI: 10.15252/Emmm.201303671  0.673
2014 Settembre C, Ballabio A. Lysosome: regulator of lipid degradation pathways. Trends in Cell Biology. 24: 743-50. PMID 25061009 DOI: 10.1016/J.Tcb.2014.06.006  0.343
2014 Emanuel R, Sergin I, Bhattacharya S, Turner JN, Epelman S, Settembre C, Diwan A, Ballabio A, Razani B. Induction of lysosomal biogenesis in atherosclerotic macrophages can rescue lipid-induced lysosomal dysfunction and downstream sequelae. Arteriosclerosis, Thrombosis, and Vascular Biology. 34: 1942-52. PMID 25060788 DOI: 10.1161/Atvbaha.114.303342  0.307
2014 Polishchuk EV, Concilli M, Iacobacci S, Chesi G, Pastore N, Piccolo P, Paladino S, Baldantoni D, van IJzendoorn SC, Chan J, Chang CJ, Amoresano A, Pane F, Pucci P, Tarallo A, ... ... Ballabio A, et al. Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis. Developmental Cell. 29: 686-700. PMID 24909901 DOI: 10.1016/J.Devcel.2014.04.033  0.303
2014 Settembre C, Ballabio A. Lysosomal adaptation: how the lysosome responds to external cues. Cold Spring Harbor Perspectives in Biology. 6. PMID 24799353 DOI: 10.1101/Cshperspect.A016907  0.329
2014 Moskot M, Montefusco S, Jakóbkiewicz-Banecka J, Mozolewski P, WÄ™grzyn A, Di Bernardo D, WÄ™grzyn G, Medina DL, Ballabio A, Gabig-CimiÅ„ska M. The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation. The Journal of Biological Chemistry. 289: 17054-69. PMID 24770416 DOI: 10.1074/Jbc.M114.555300  0.412
2014 Tardieu M, Zérah M, Husson B, de Bournonville S, Deiva K, Adamsbaum C, Vincent F, Hocquemiller M, Broissand C, Furlan V, Ballabio A, Fraldi A, Crystal RG, Baugnon T, Roujeau T, et al. Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Human Gene Therapy. 25: 506-16. PMID 24524415 DOI: 10.1089/Hum.2013.238  0.675
2014 Quintavalle C, Di Costanzo S, Zanca C, Tasset I, Fraldi A, Incoronato M, Mirabelli P, Monti M, Ballabio A, Pucci P, Cuervo AM, Condorelli G. Phosphorylation-regulated degradation of the tumor-suppressor form of PED by chaperone-mediated autophagy in lung cancer cells. Journal of Cellular Physiology. 229: 1359-68. PMID 24477641 DOI: 10.1002/Jcp.24569  0.694
2013 Settembre C, Ballabio A. New targets for old diseases: lessons from mucolipidosis type II. Embo Molecular Medicine. 5: 1801-3. PMID 24293315 DOI: 10.1002/Emmm.201303496  0.406
2013 Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, Brighina E, Scarlato M, Musumeci O, Toscano A, Martinuzzi A, Santorelli FM, Ballabio A, Bresolin N, Clementi E, Bassi MT. Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. Brain : a Journal of Neurology. 136: 3119-39. PMID 24030950 DOI: 10.1093/Brain/Awt227  0.368
2013 Feeney EJ, Spampanato C, Puertollano R, Ballabio A, Parenti G, Raben N. What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease. Autophagy. 9: 1117-8. PMID 23669057 DOI: 10.4161/Auto.24920  0.354
2013 Settembre C, Fraldi A, Medina DL, Ballabio A. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nature Reviews. Molecular Cell Biology. 14: 283-96. PMID 23609508 DOI: 10.1038/Nrm3565  0.706
2013 Spampanato C, Feeney E, Li L, Cardone M, Lim JA, Annunziata F, Zare H, Polishchuk R, Puertollano R, Parenti G, Ballabio A, Raben N. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. Embo Molecular Medicine. 5: 691-706. PMID 23606558 DOI: 10.1002/Emmm.201202176  0.341
2013 Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Klisch TJ, Wollenberg AC, Di Bernardo D, Chan L, Irazoqui JE, Ballabio A. TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nature Cell Biology. 15: 647-58. PMID 23604321 DOI: 10.1038/Ncb2718  0.329
2013 Ferron M, Settembre C, Shimazu J, Lacombe J, Kato S, Rawlings DJ, Ballabio A, Karsenty G. A RANKL-PKCβ-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts. Genes & Development. 27: 955-69. PMID 23599343 DOI: 10.1101/Gad.213827.113  0.345
2013 Pastore N, Ballabio A, Brunetti-Pierri N. Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers. Autophagy. 9: 1094-6. PMID 23584152 DOI: 10.4161/Auto.24469  0.319
2013 Sorrentino NC, D'Orsi L, Sambri I, Nusco E, Monaco C, Spampanato C, Polishchuk E, Saccone P, De Leonibus E, Ballabio A, Fraldi A. A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. Embo Molecular Medicine. 5: 675-90. PMID 23568409 DOI: 10.1002/Emmm.201202083  0.684
2013 Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N. Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency. Embo Molecular Medicine. 5: 397-412. PMID 23381957 DOI: 10.1002/Emmm.201202046  0.331
2013 Bachetti T, Chiesa S, Castagnola P, Bani D, Di Zanni E, Omenetti A, D'Osualdo A, Fraldi A, Ballabio A, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS). Annals of the Rheumatic Diseases. 72: 1044-52. PMID 23117241 DOI: 10.1136/Annrheumdis-2012-201952  0.692
2013 Bachetti T, Chiesa S, Castagnola P, Bani D, Di Zanni E, Omenetti A, D'Osualdo A, Fraldi A, Ballabio A, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. OR7-006 – Autophagy as a player in inflammation in TRAPS Pediatric Rheumatology. 11. DOI: 10.1186/1546-0096-11-S1-A107  0.71
2012 Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, ... ... Ballabio A, et al. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 8: 445-544. PMID 22966490 DOI: 10.4161/Auto.19496  0.301
2012 Di Malta C, Fryer JD, Settembre C, Ballabio A. Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder. Proceedings of the National Academy of Sciences of the United States of America. 109: E2334-42. PMID 22826245 DOI: 10.1073/Pnas.1209577109  0.312
2012 Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A. Autophagy in lysosomal storage disorders. Autophagy. 8: 719-30. PMID 22647656 DOI: 10.4161/Auto.19469  0.356
2012 Gennarino VA, D'Angelo G, Dharmalingam G, Fernandez S, Russolillo G, Sanges R, Mutarelli M, Belcastro V, Ballabio A, Verde P, Sardiello M, Banfi S. Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Research. 22: 1163-72. PMID 22345618 DOI: 10.1101/Gr.130435.111  0.644
2012 Settembre C, Zoncu R, Medina DL, Vetrini F, Erdin S, Erdin S, Huynh T, Ferron M, Karsenty G, Vellard MC, Facchinetti V, Sabatini DM, Ballabio A. A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. The Embo Journal. 31: 1095-108. PMID 22343943 DOI: 10.1038/Emboj.2012.32  0.358
2012 de Pablo-Latorre R, Saide A, Polishhuck EV, Nusco E, Fraldi A, Ballabio A. Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases. Human Molecular Genetics. 21: 1770-81. PMID 22215441 DOI: 10.1093/Hmg/Ddr610  0.689
2011 Medina DL, Fraldi A, Bouche V, Annunziata F, Mansueto G, Spampanato C, Puri C, Pignata A, Martina JA, Sardiello M, Palmieri M, Polishchuk R, Puertollano R, Ballabio A. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Developmental Cell. 21: 421-30. PMID 21889421 DOI: 10.1016/J.Devcel.2011.07.016  0.789
2011 Settembre C, Ballabio A. TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes. Autophagy. 7: 1379-81. PMID 21785263 DOI: 10.4161/Auto.7.11.17166  0.368
2011 Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Human Molecular Genetics. 20: 3852-66. PMID 21752829 DOI: 10.1093/Hmg/Ddr306  0.703
2011 Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A. TFEB links autophagy to lysosomal biogenesis. Science (New York, N.Y.). 332: 1429-33. PMID 21617040 DOI: 10.1126/Science.1204592  0.697
2011 Spampanato C, De Leonibus E, Dama P, Gargiulo A, Fraldi A, Sorrentino NC, Russo F, Nusco E, Auricchio A, Surace EM, Ballabio A. Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. Molecular Therapy : the Journal of the American Society of Gene Therapy. 19: 860-9. PMID 21326216 DOI: 10.1038/Mt.2010.299  0.699
2011 Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, ... ... Ballabio A, et al. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Plos Biology. 9: e1000582. PMID 21267068 DOI: 10.1371/Journal.Pbio.1000582  0.357
2010 Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Medina DL, Spampanato C, Fedele AO, Polishchuk R, Sorrentino NC, Simons K, Ballabio A. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. The Embo Journal. 29: 3607-20. PMID 20871593 DOI: 10.1038/Emboj.2010.237  0.685
2010 Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina D, Settembre C, Gavina M, Pulze L, Giardino I, Pettoello-Mantovani M, D'Apolito M, Guido S, Masliah E, Spencer B, Quaratino S, ... ... Ballabio A, et al. Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition. Nature Cell Biology. 12: 863-75. PMID 20711182 DOI: 10.1038/Ncb2090  0.339
2010 De Cegli R, Romito A, Iacobacci S, Mao L, Lauria M, Fedele AO, Klose J, Borel C, Descombes P, Antonarakis SE, di Bernardo D, Banfi S, Ballabio A, Cobellis G. A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. Genome Biology. 11: R64. PMID 20569505 DOI: 10.1186/Gb-2010-11-6-R64  0.321
2010 Romito A, Lonardo E, Roma G, Minchiotti G, Ballabio A, Cobellis G. Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2. Plos One. 5: e9029. PMID 20140255 DOI: 10.1371/Journal.Pone.0009029  0.3
2009 Sardiello M, Ballabio A. Lysosomal enhancement: a CLEAR answer to cellular degradative needs. Cell Cycle (Georgetown, Tex.). 8: 4021-2. PMID 19949301 DOI: 10.4161/Cc.8.24.10263  0.654
2009 Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A. A gene network regulating lysosomal biogenesis and function. Science (New York, N.Y.). 325: 473-7. PMID 19556463 DOI: 10.1126/Science.1174447  0.719
2009 Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochimica Et Biophysica Acta. 1793: 684-96. PMID 19111581 DOI: 10.1016/J.Bbamcr.2008.12.001  0.339
2009 Gennarino VA, Sardiello M, Avellino R, Meola N, Maselli V, Anand S, Cutillo L, Ballabio A, Banfi S. MicroRNA target prediction by expression analysis of host genes. Genome Research. 19: 481-90. PMID 19088304 DOI: 10.1101/Gr.084129.108  0.638
2009 Settembre C, Arteaga-Solis E, Ballabio A, Karsenty G. Self-eating in skeletal development: implications for lysosomal storage disorders. Autophagy. 5: 228-9. PMID 19029806 DOI: 10.4161/Auto.5.2.7390  0.402
2008 Ballabio A, Antonarakis S. Welcome to PathoGenetics. Pathogenetics. 1: 1. PMID 19014665 DOI: 10.1186/1755-8417-1-1  0.375
2008 Settembre C, Arteaga-Solis E, McKee MD, de Pablo R, Al Awqati Q, Ballabio A, Karsenty G. Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification. Genes & Development. 22: 2645-50. PMID 18832069 DOI: 10.1101/Gad.1711308  0.325
2008 Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, et al. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Human Molecular Genetics. 17: 3487-501. PMID 18697795 DOI: 10.1093/Hmg/Ddn241  0.356
2008 Sardiello M, Cairo S, Fontanella B, Ballabio A, Meroni G. Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties. Bmc Evolutionary Biology. 8: 225. PMID 18673550 DOI: 10.1186/1471-2148-8-225  0.674
2008 Yi? U, Pepe S, Kurul SH, Ballabio A, Cosma MP, Dirik E. Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. Brain & Development. 30: 374-7. PMID 18509892 DOI: 10.1016/J.Braindev.2007.10.007  0.335
2008 Fraldi A, Zito E, Annunziata F, Lombardi A, Cozzolino M, Monti M, Spampanato C, Ballabio A, Pucci P, Sitia R, Cosma MP. Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. Human Molecular Genetics. 17: 2610-21. PMID 18508857 DOI: 10.1093/Hmg/Ddn161  0.717
2008 Settembre C, Fraldi A, Rubinsztein DC, Ballabio A. Lysosomal storage diseases as disorders of autophagy. Autophagy. 4: 113-4. PMID 18000397 DOI: 10.4161/Auto.5227  0.704
2008 Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A. A block of autophagy in lysosomal storage disorders. Human Molecular Genetics. 17: 119-29. PMID 17913701 DOI: 10.1093/Hmg/Ddm289  0.718
2008 Ballabio A, Pallini R, Natale PD. Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients Clinical Genetics. 25: 191-195. PMID 6231143 DOI: 10.1111/J.1399-0004.1984.Tb00484.X  0.306
2007 Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G. Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 508-514. PMID 28182897 DOI: 10.1038/Sj.Mt.6300074  0.334
2007 Capotondo A, Cesani M, Pepe S, Fasano S, Gregori S, Tononi L, Venneri MA, Brambilla R, Quattrini A, Ballabio A, Cosma MP, Naldini L, Biffi A. Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. Human Gene Therapy. 18: 821-36. PMID 17845130 DOI: 10.1089/Hum.2007.048  0.351
2007 Roma C, Ferrante P, Guardiola O, Ballabio A, Zollo M. New mutations identified in the ocular albinism type 1 gene. Gene. 402: 20-7. PMID 17822861 DOI: 10.1016/J.Gene.2007.07.020  0.35
2007 Fraldi A, Hemsley K, Crawley A, Lombardi A, Lau A, Sutherland L, Auricchio A, Ballabio A, Hopwood JJ. Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Human Molecular Genetics. 16: 2693-702. PMID 17725987 DOI: 10.1093/Hmg/Ddm223  0.704
2007 Annunziata I, Bouchè V, Lombardi A, Settembre C, Ballabio A. Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. Human Mutation. 28: 928. PMID 17657823 DOI: 10.1002/Humu.9504  0.395
2007 Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, Cosma MP. Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. The Embo Journal. 26: 2443-53. PMID 17446859 DOI: 10.1038/Sj.Emboj.7601695  0.335
2007 Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, di Natale P, Cosma MP, Ballabio A. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. Human Mutation. 28: 523. PMID 17397050 DOI: 10.1002/Humu.9488  0.377
2007 Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G. Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. American Journal of Physiology. Cell Physiology. 293: C191-8. PMID 17376816 DOI: 10.1152/Ajpcell.00583.2006  0.366
2007 Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A. Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proceedings of the National Academy of Sciences of the United States of America. 104: 4506-11. PMID 17360554 DOI: 10.1073/Pnas.0700382104  0.401
2007 Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. American Journal of Human Genetics. 80: 751-8. PMID 17357080 DOI: 10.1086/513321  0.386
2007 Fraldi A, Biffi A, Lombardi A, Visigalli I, Pepe S, Settembre C, Nusco E, Auricchio A, Naldini L, Ballabio A, Cosma MP. SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. The Biochemical Journal. 403: 305-12. PMID 17206939 DOI: 10.1042/Bj20061783  0.726
2007 Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, ... ... Ballabio A, et al. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Human Mutation. 28: 265-72. PMID 17054105 DOI: 10.1002/Humu.20431  0.306
2006 Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. American Journal of Human Genetics. 79: 878-89. PMID 17033964 DOI: 10.1086/508474  0.33
2006 Franco B, Ballabio A. X-inactivation and human disease: X-linked dominant male-lethal disorders. Current Opinion in Genetics & Development. 16: 254-9. PMID 16650755 DOI: 10.1016/J.Gde.2006.04.012  0.327
2006 Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, Marigo V. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. Human Mutation. 27: 420-6. PMID 16550551 DOI: 10.1002/Humu.20303  0.376
2006 Cardone M, Polito VA, Pepe S, Mann L, D'Azzo A, Auricchio A, Ballabio A, Cosma MP. Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Human Molecular Genetics. 15: 1225-36. PMID 16505002 DOI: 10.1093/Hmg/Ddl038  0.351
2005 Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Investigative Ophthalmology & Visual Science. 46: 4358-64. PMID 16303920 DOI: 10.1167/Iovs.05-0834  0.319
2005 Sardiello M, Annunziata I, Roma G, Ballabio A. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Human Molecular Genetics. 14: 3203-17. PMID 16174644 DOI: 10.1093/Hmg/Ddi351  0.703
2005 Diez-Roux G, Ballabio A. Sulfatases and human disease. Annual Review of Genomics and Human Genetics. 6: 355-79. PMID 16124866 DOI: 10.1146/Annurev.Genom.6.080604.162334  0.363
2005 Bulfone A, Carotenuto P, Faedo A, Aglio V, Garzia L, Bello AM, Basile A, Andrè A, Cocchia M, Guardiola O, Ballabio A, Rubenstein JL, Zollo M. Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 25: 7586-600. PMID 16107646 DOI: 10.1523/Jneurosci.0522-05.2005  0.377
2005 Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. American Journal of Medical Genetics. Part A. 137: 190-8. PMID 16059943 DOI: 10.1002/Ajmg.A.30864  0.345
2005 Surace EM, Domenici L, Cortese K, Cotugno G, Di Vicino U, Venturi C, Cellerino A, Marigo V, Tacchetti C, Ballabio A, Auricchio A. Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. Molecular Therapy : the Journal of the American Society of Gene Therapy. 12: 652-8. PMID 16023414 DOI: 10.1016/J.Ymthe.2005.06.001  0.322
2005 Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP. Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. Embo Reports. 6: 655-60. PMID 15962010 DOI: 10.1038/Sj.Embor.7400454  0.719
2005 Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, ... ... Ballabio A, et al. The DNA sequence of the human X chromosome. Nature. 434: 325-37. PMID 15772651 DOI: 10.1038/Nature03440  0.305
2005 Cobellis G, Nicolaus G, Iovino M, Romito A, Marra E, Barbarisi M, Sardiello M, Di Giorgio FP, Iovino N, Zollo M, Ballabio A, Cortese R. Tagging genes with cassette-exchange sites. Nucleic Acids Research. 33: e44. PMID 15741177 DOI: 10.1093/Nar/Gni045  0.687
2005 Boccia A, Petrillo M, di Bernardo D, Guffanti A, Mignone F, Confalonieri S, Luzi L, Pesole G, Paolella G, Ballabio A, Banfi S. DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes. Nucleic Acids Research. 33: D505-10. PMID 15608249 DOI: 10.1093/Nar/Gki011  0.355
2004 Auwerx J, Avner P, Baldock R, Ballabio A, Balling R, Barbacid M, Berns A, Bradley A, Brown S, Carmeliet P, Chambon P, Cox R, Davidson D, Davies K, Duboule D, et al. The European dimension for the mouse genome mutagenesis program. Nature Genetics. 36: 925-7. PMID 15340424 DOI: 10.1038/Ng0904-925  0.318
2004 Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V. The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. Molecular and Cellular Biology. 24: 6550-9. PMID 15254223 DOI: 10.1128/Mcb.24.15.6550-6559.2004  0.404
2004 Ferrante P, Messali S, Ballabio A, Meroni G. Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. Gene. 336: 155-61. PMID 15246527 DOI: 10.1016/J.Gene.2004.04.001  0.391
2004 Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, ... ... Ballabio A, et al. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Human Mutation. 23: 576-81. PMID 15146462 DOI: 10.1002/Humu.20040  0.31
2004 Monti E, Bassi MT, Bresciani R, Civini S, Croci GL, Papini N, Riboni M, Zanchetti G, Ballabio A, Preti A, Tettamanti G, Venerando B, Borsani G. Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family. Genomics. 83: 445-53. PMID 14962670 DOI: 10.1016/J.Ygeno.2003.08.019  0.354
2003 Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. The Journal of Cell Biology. 163: 777-87. PMID 14623864 DOI: 10.1083/Jcb.200304112  0.327
2003 De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, et al. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. American Journal of Medical Genetics. Part A. 120: 222-8. PMID 12833403 DOI: 10.1002/Ajmg.A.10265  0.355
2003 Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell. 113: 445-56. PMID 12757706 DOI: 10.1016/S0092-8674(03)00348-9  0.418
2003 Marconi R, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S, Ballabio A, Morgante L, Musolino R, Epifanio A, Micieli G, De Michele G, Casari G. Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. Annals of Neurology. 53: 376-81. PMID 12601705 DOI: 10.1002/Ana.10464  0.31
2003 Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. American Journal of Medical Genetics. Part A. 117: 164-8. PMID 12567415 DOI: 10.1002/Ajmg.A.10950  0.357
2003 Angeletti B, Löster J, Auricchio A, Gekeler F, Shinoda K, Ballabio A, Graw J, Marigo V. An in vivo doxycycline-controlled expression system for functional studies of the retina. Investigative Ophthalmology & Visual Science. 44: 755-60. PMID 12556410 DOI: 10.1167/Iovs.02-0340  0.338
2003 De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nature Genetics. 33: 192-6. PMID 12539047 DOI: 10.1038/Ng1081  0.303
2003 Ferrante P, Messali S, Meroni G, Ballabio A. Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG). European Journal of Human Genetics : Ejhg. 10: 813-8. PMID 12461688 DOI: 10.1038/Sj.Ejhg.5200887  0.368
2002 Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A. Human chromosome 21 gene expression atlas in the mouse Nature. 420: 582-586. PMID 12466854 DOI: 10.1038/Nature01178  0.349
2002 Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. American Journal of Human Genetics. 71: 952-8. PMID 12189593 DOI: 10.1086/342668  0.317
2002 Schiaffino MV, Dellambra E, Cortese K, Baschirotto C, Bondanza S, Clementi M, Nucci P, Ballabio A, Tacchetti C, De Luca M. Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes. Human Gene Therapy. 13: 947-57. PMID 12031127 DOI: 10.1089/10430340252939050  0.36
2002 Errico A, Ballabio A, Rugarli EI. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Human Molecular Genetics. 11: 153-63. PMID 11809724 DOI: 10.1093/Hmg/11.2.153  0.345
2002 Pierantoni GM, Bulfone A, Pentimalli F, Fedele M, Iuliano R, Santoro M, Chiariotti L, Ballabio A, Fusco A. The homeodomain-interacting protein kinase 2 gene is expressed late in embryogenesis and preferentially in retina, muscle, and neural tissues. Biochemical and Biophysical Research Communications. 290: 942-7. PMID 11798164 DOI: 10.1006/Bbrc.2001.6310  0.348
2001 Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M. Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). Journal of Medical Genetics. 38: 411-7. PMID 11424926 DOI: 10.1136/Jmg.38.6.411  0.337
2001 Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A. The tripartite motif family identifies cell compartments. The Embo Journal. 20: 2140-51. PMID 11331580 DOI: 10.1093/Emboj/20.9.2140  0.342
2001 Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A. WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. Human Molecular Genetics. 10: 617-27. PMID 11230181 DOI: 10.1093/Hmg/10.6.617  0.398
2001 Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Human Genetics. 108: 51-4. PMID 11214907 DOI: 10.1007/S004390000440  0.364
2001 Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, et al. Identification of the gene for oral-facial-digital type I syndrome. American Journal of Human Genetics. 68: 569-76. PMID 11179005 DOI: 10.1086/318802  0.374
2001 Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL, Manzoni M, Riboni M, ... Ballabio A, et al. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Human Molecular Genetics. 10: 305-16. PMID 11157794 DOI: 10.1093/Hmg/10.4.305  0.307
2001 d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Human Molecular Genetics. 9: 3011-8. PMID 11115845 DOI: 10.1093/Hmg/9.20.3011  0.363
2001 Buchner G, Broccoli V, Bulfone A, Orfanelli U, Gattuso C, Ballabio A, Franco B. MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives. Mechanisms of Development. 98: 179-82. PMID 11044626 DOI: 10.1016/S0925-4773(00)00462-7  0.327
2001 Monti E, Bassi MT, Papini N, Riboni M, Manzoni M, Venerando B, Croci G, Preti A, Ballabio A, Tettamanti G, Borsani G. Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane. The Biochemical Journal. 349: 343-51. PMID 10861246 DOI: 10.1042/0264-6021:3490343  0.321
2000 Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A. Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Human Molecular Genetics. 9: 2781-8. PMID 11092754 DOI: 10.1093/Hmg/9.19.2781  0.327
2000 Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G. Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. American Journal of Human Genetics. 67: 1110-20. PMID 11013137 DOI: 10.1016/S0002-9297(07)62941-3  0.409
2000 Meroni G, Cairo S, Merla G, Messali S, Brent R, Ballabio A, Reymond A. Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? Oncogene. 19: 3266-77. PMID 10918583 DOI: 10.1038/Sj.Onc.1203634  0.355
2000 Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. American Journal of Human Genetics. 67: 563-73. PMID 10903929 DOI: 10.1086/303047  0.34
2000 Bulfone A, Menguzzato E, Broccoli V, Marchitiello A, Gattuso C, Mariani M, Consalez GG, Martinez S, Ballabio A, Banfi S. Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. Human Molecular Genetics. 9: 1443-52. PMID 10814725 DOI: 10.1093/Hmg/9.9.1443  0.377
2000 Buchner G, Orfanelli U, Quaderi N, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. Genomics. 65: 16-23. PMID 10777661 DOI: 10.1006/Geno.2000.6146  0.386
2000 Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, et al. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. American Journal of Human Genetics. 66: 92-9. PMID 10631139 DOI: 10.1086/302700  0.32
2000 Reymond A, Volorio S, Merla G, Al-Maghtheh M, Zuffardi O, Bulfone A, Ballabio A, Zollo M. Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. Oncogene. 18: 7244-52. PMID 10602478 DOI: 10.1038/Sj.Onc.1203140  0.339
2000 Monti E, Preti A, Nesti C, Ballabio A, Borsani G. Expression of a novel human sialidase encoded by the NEU2 gene. Glycobiology. 9: 1313-21. PMID 10561456 DOI: 10.1093/Glycob/9.12.1313  0.343
1999 Bassi MT, Sperandeo MP, Incerti B, Bulfone A, Pepe A, Surace EM, Gattuso C, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Andria G, Ballabio A, Borsani G, Sebastio G. SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. Genomics. 62: 297-303. PMID 10610726 DOI: 10.1006/Geno.1999.5978  0.319
1999 Buchner G, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 Region Genomics. 62: 113-118. PMID 10585778 DOI: 10.1006/Geno.1999.6015  0.324
1999 Barbieri AM, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, Consalez GG, Borsani G, Beckmann JS, Barsacchi G, Ballabio A, Banfi S. A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. Proceedings of the National Academy of Sciences of the United States of America. 96: 10729-34. PMID 10485894 DOI: 10.1073/Pnas.96.19.10729  0.321
1999 Bulfone A, Martinez S, Marigo V, Campanella M, Basile A, Quaderi N, Gattuso C, Rubenstein JL, Ballabio A. Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development. Mechanisms of Development. 84: 133-8. PMID 10473127 DOI: 10.1016/S0925-4773(99)00053-2  0.32
1999 Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A. Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nature Genetics. 23: 108-12. PMID 10471510 DOI: 10.1038/12715  0.303
1999 Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, ... ... Ballabio A, et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nature Genetics. 23: 52-7. PMID 10471498 DOI: 10.1038/12652  0.322
1999 Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A. Evidence for genetic heterogeneity in benign familial hematuria. American Journal of Nephrology. 19: 464-7. PMID 10460935 DOI: 10.1159/000013499  0.305
1999 Buchner G, Montini E, Andolfi G, Quaderi N, Cainarca S, Messali S, Bassi MT, Ballabio A, Meroni G, Franco B. MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. Human Molecular Genetics. 8: 1397-407. PMID 10400986 DOI: 10.1093/Hmg/8.8.1397  0.392
1999 Cainarca S, Messali S, Ballabio A, Meroni G. Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Human Molecular Genetics. 8: 1387-96. PMID 10400985 DOI: 10.1093/Hmg/8.8.1387  0.374
1999 Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 59: 77-84. PMID 10395802 DOI: 10.1006/Geno.1999.5844  0.402
1999 Montini E, Buchner G, Spalluto C, Andolfi G, Caruso A, den Dunnen JT, Trump D, Rocchi M, Ballabio A, Franco B. Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22. Genomics. 58: 65-72. PMID 10331946 DOI: 10.1006/Geno.1999.5755  0.37
1999 Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G. Identification of a new locus for medullary cystic disease, on chromosome 16p12. American Journal of Human Genetics. 64: 1655-60. PMID 10330352 DOI: 10.1086/302414  0.322
1999 Bassi MT, Ramesar RS, Caciotti B, Winship IM, De Grandi A, Riboni M, Townes PL, Beighton P, Ballabio A, Borsani G. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. American Journal of Human Genetics. 64: 1604-16. PMID 10330347 DOI: 10.1086/302408  0.4
1999 Monti E, Preti A, Rossi E, Ballabio A, Borsani G. Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases. Genomics. 57: 137-43. PMID 10191093 DOI: 10.1006/Geno.1999.5749  0.345
1999 Lavorgna G, Guffanti A, Borsani G, Ballabio A, Boncinelli E. TargetFinder: searching annotated sequence databases for target genes of transcription factors. Bioinformatics (Oxford, England). 15: 172-3. PMID 10089203 DOI: 10.1093/Bioinformatics/15.2.172  0.308
1999 Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Annals of Neurology. 45: 344-52. PMID 10072049 DOI: 10.1002/1531-8249(199903)45:3<344::Aid-Ana10>3.0.Co;2-9  0.327
1999 Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J. LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. American Journal of Human Genetics. 64: 62-9. PMID 9915944 DOI: 10.1086/302213  0.317
1999 Volta M, Bulfone A, Gattuso C, Rossi E, Mariani M, Consalez GG, Zuffardi O, Ballabio A, Banfi S, Franco B. Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics. 55: 68-77. PMID 9889000 DOI: 10.1006/Geno.1998.5610  0.348
1999 Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, et al. EYA4, a novel vertebrate gene related to Drosophila eyes absent. Human Molecular Genetics. 8: 11-23. PMID 9887327 DOI: 10.1093/Hmg/8.1.11  0.368
1999 Bulfone A, Gattuso C, Marchitiello A, Pardini C, Boncinelli E, Borsani G, Banfi S, Ballabio A. The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. Human Molecular Genetics. 7: 1997-2006. PMID 9817915 DOI: 10.1093/Hmg/7.13.1997  0.378
1999 Fogli A, Guerrini R, Moro F, Fernandez-Alvarez E, Livet MO, Renieri A, Cioni M, Pilz DT, Veggiotti P, Rossi E, Ballabio A, Carrozzo R. Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly Annals of Neurology. 45: 154-161. DOI: 10.1002/1531-8249(199902)45:2<154::Aid-Ana4>3.0.Co;2-P  0.317
1998 de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics. 51: 243-50. PMID 9722947 DOI: 10.1006/Geno.1998.5348  0.354
1998 Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A, Franco B. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region Genomics. 51: 427-433. PMID 9721213 DOI: 10.1006/Geno.1998.5391  0.373
1998 Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. American Journal of Human Genetics. 63: 703-10. PMID 9718340 DOI: 10.1086/302010  0.345
1998 Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B, Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 93: 973-83. PMID 9635427 DOI: 10.1016/S0092-8674(00)81203-9  0.345
1998 De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. American Journal of Human Genetics. 63: 135-9. PMID 9634528 DOI: 10.1086/301930  0.31
1998 Den Dunnen JT, Kraayenbrink T, Van Schooneveld M, Van Vosse ED, De Jong PTVM, Ten Brink JB, Schuurman E, Tijmes N, Van Ommen GJB, Bergen AAB, Andolfi G, Montini E, Li Y, Oudet C, Bolz H, ... ... Ballabio A, et al. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) Human Molecular Genetics. 7: 1185-1192. PMID 9618178 DOI: 10.1093/Hmg/7.7.1185  0.319
1998 Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? Journal of Medical Genetics. 35: 273-8. PMID 9598718 DOI: 10.1136/Jmg.35.4.273  0.362
1998 Lo Nigro C, Venesio T, Reymond A, Meroni G, Alberici P, Cainarca S, Enrico F, Stack M, Ledbetter DH, Liscia DS, Ballabio A, Carrozzo R. The human ROX gene: genomic structure and mutation analysis in human breast tumors. Genomics. 49: 275-82. PMID 9598315 DOI: 10.1006/Geno.1998.5241  0.39
1998 Puca AA, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi E, Di Iorio G, Ballabio A, Franco B. Identification and characterization of a novel member of the dystrobrevin gene family. Febs Letters. 425: 7-13. PMID 9540997 DOI: 10.1016/S0014-5793(98)00097-0  0.331
1998 Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. American Journal of Human Genetics. 62: 533-41. PMID 9497258 DOI: 10.1086/301761  0.398
1998 Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. American Journal of Human Genetics. 62: 562-72. PMID 9497243 DOI: 10.1086/301746  0.38
1998 Valsecchi C, Ghezzi C, Ballabio A, Rugarli EI. JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial-mesenchymal interactions. Mechanisms of Development. 69: 203-7. PMID 9486542 DOI: 10.1016/S0925-4773(97)00146-9  0.302
1998 Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics. 47: 350-8. PMID 9480748 DOI: 10.1006/Geno.1997.5104  0.379
1998 Rocchigiani M, Lestingi M, Luddi A, Orlandini M, Franco B, Rossi E, Ballabio A, Zuffardi O, Oliviero S. Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes. Genomics. 47: 207-16. PMID 9479493 DOI: 10.1006/Geno.1997.5079  0.362
1998 Dal Zotto L, Quaderi NA, Elliott R, Lingerfelter PA, Carrel L, Valsecchi V, Montini E, Yen CH, Chapman V, Kalcheva I, Arrigo G, Zuffardi O, Thomas S, Willard HF, Ballabio A, et al. The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Human Molecular Genetics. 7: 489-99. PMID 9467009 DOI: 10.1093/Hmg/7.3.489  0.403
1998 Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. American Journal of Medical Genetics. 73: 139-43. PMID 9409863 DOI: 10.1002/(Sici)1096-8628(19971212)73:2<139::Aid-Ajmg7>3.0.Co;2-P  0.348
1998 van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA. Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. Human Genetics. 101: 235-7. PMID 9402977 DOI: 10.1007/S004390050622  0.361
1998 Petrella A, Doti I, Agosti V, Giarrusso PC, Vitale D, Bond H, Cuomo C, Tassone P, Franco B, Ballabio A, Venuta S, Morrone G. A 5′ Regulatory Sequence Containing Two Ets Motifs Controls the Expression of the Wiskott-Aldrich Syndrome Protein (WASP) Gene in Human Hematopoietic Cells Blood. 91: 4554-4560. DOI: 10.1182/Blood.V91.12.4554  0.372
1997 Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, ... Ballabio A, et al. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genetics. 17: 285-91. PMID 9354791 DOI: 10.1038/Ng1197-285  0.397
1997 Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. A submicroscopic deletion in Xq26 associated with familial situs ambiguus. American Journal of Human Genetics. 61: 395-401. PMID 9311745 DOI: 10.1086/514857  0.334
1997 Banfi S, Borsani G, Bulfone A, Ballabio A. Drosophila-related expressed sequences. Human Molecular Genetics. 6: 1745-53. PMID 9300667 DOI: 10.1093/Hmg/6.10.1745  0.384
1997 Adler DA, Rugarli EI, Lingenfelter PA, Tsuchiya K, Poslinski D, Liggitt HD, Chapman VM, Elliott RW, Ballabio A, Disteche CM. Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus. Proceedings of the National Academy of Sciences of the United States of America. 94: 9244-8. PMID 9256467 DOI: 10.1073/Pnas.94.17.9244  0.337
1997 Gläser B, Grützner F, Taylor K, Schiebel K, Meroni G, Tsioupra K, Pasantes J, Rietschel W, Toder R, Willmann U, Zeitler S, Yen P, Ballabio A, Rappold G, Schempp W. Comparative mapping of Xp22 genes in hominoids--evolutionary linear instability of their Y homologues. Chromosome Research : An International Journal On the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology. 5: 167-76. PMID 9246409 DOI: 10.1023/A:1018490713273  0.314
1997 Parenti G, Meroni G, Ballabio A. The sulfatase gene family. Current Opinion in Genetics & Development. 7: 386-91. PMID 9229115 DOI: 10.1016/S0959-437X(97)80153-0  0.36
1997 Montini E, Rugarli EI, Van de Vosse E, Andolfi G, Mariani M, Puca AA, Consalez GG, den Dunnen JT, Ballabio A, Franco B. A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. Human Molecular Genetics. 6: 1137-45. PMID 9215685 DOI: 10.1093/Hmg/6.7.1137  0.355
1997 Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A, Franco B. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Genomics. 42: 192-9. PMID 9192838 DOI: 10.1006/Geno.1997.4716  0.385
1997 Meroni G, Reymond A, Alcalay M, Borsani G, Tanigami A, Tonlorenzi R, Lo Nigro C, Messali S, Zollo M, Ledbetter DH, Brent R, Ballabio A, Carrozzo R. Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor. The Embo Journal. 16: 2892-906. PMID 9184233 DOI: 10.1093/Emboj/16.10.2892  0.373
1997 Ballabio A. Positional cloning, transcription mapping, and whole genome gene identification: the choice is yours! European Journal of Human Genetics : Ejhg. 4: 307. PMID 9043861 DOI: 10.1159/000472223  0.301
1997 Bassi MT, Incerti B, Easty DJ, Sviderskaya EV, Ballabio A. Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. Genome Research. 6: 880-5. PMID 8889556 DOI: 10.1101/Gr.6.9.880  0.389
1997 Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y. Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. American Journal of Medical Genetics. 64: 583-7. PMID 8870926 DOI: 10.1002/(Sici)1096-8628(19960906)64:4<583::Aid-Ajmg11>3.0.Co;2-D  0.312
1997 Auricchio A, Casari G, Staiano A, Ballabio A. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Human Molecular Genetics. 5: 351-4. PMID 8852659 DOI: 10.1093/Hmg/5.3.351  0.327
1997 Rugarli EI, Ghezzi C, Valsecchi V, Ballabio A. The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. Human Molecular Genetics. 5: 1109-15. PMID 8842728 DOI: 10.1093/Hmg/5.8.1109  0.356
1997 Mills KA, Mathews KD, Scherpbier-Heddema T, Buetow KH, Baldini A, Ballabio A, Borsani G. Genetic and physical mapping of a voltage-dependent chloride channel gene to human 4q32 and to mouse 8. Genomics. 36: 374-6. PMID 8812471 DOI: 10.1006/Geno.1996.0480  0.306
1996 Ballabio A. MLS, Aicardi and Goltz syndromes: how many genes involved? American Journal of Medical Genetics. 59: 100. PMID 8848999 DOI: 10.1002/Ajmg.1320590120  0.32
1996 Meroni G, Franco B, Archidiacono N, Messali S, Andolfi G, Rocchi M, Ballabio A. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Human Molecular Genetics. 5: 423-31. PMID 8845834 DOI: 10.1093/Hmg/5.4.423  0.353
1996 Casey B, Cuneo BF, Vitali C, van Hecke H, Barrish J, Hicks J, Ballabio A, Hoo JJ. Autosomal dominant transmission of familial laterality defects. American Journal of Medical Genetics. 61: 325-8. PMID 8834043 DOI: 10.1002/(Sici)1096-8628(19960202)61:4<325::Aid-Ajmg5>3.0.Co;2-T  0.301
1996 Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proceedings of the National Academy of Sciences of the United States of America. 93: 9055-60. PMID 8799153 DOI: 10.1073/Pnas.93.17.9055  0.363
1996 Schaefer L, Ballabio A, Zoghbi HY. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 34: 166-72. PMID 8661044 DOI: 10.1006/Geno.1996.0261  0.369
1996 Banfi S, Borsani G, Rossi E, Bernard L, Guffanti A, Rubboli F, Marchitiello A, Giglio S, Coluccia E, Zollo M, Zuffardi O, Ballabio A. Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nature Genetics. 13: 167-74. PMID 8640222 DOI: 10.1038/Ng0696-167  0.366
1995 Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, ... ... Ballabio A, et al. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. American Journal of Medical Genetics. 59: 380-5. PMID 8599366 DOI: 10.1002/Ajmg.1320590320  0.362
1995 Lutz B, Kuratani S, Rugarli EI, Wawersik S, Wong C, Bieber FR, Ballabio A, Eichele G. Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo. Human Molecular Genetics. 3: 1717-23. PMID 7849694 DOI: 10.1093/Hmg/3.10.1717  0.305
1995 Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. Human Mutation. 4: 195-8. PMID 7833948 DOI: 10.1002/Humu.1380040304  0.367
1995 Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A. Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Human Molecular Genetics. 4: 373-82. PMID 7795590 DOI: 10.1093/Hmg/4.3.373  0.41
1995 Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 81: 15-25. PMID 7720070 DOI: 10.1016/0092-8674(95)90367-4  0.388
1995 Parenti G, Rizzolo MG, Ghezzi M, Di Maio S, Sperandeo MP, Incerti B, Franco B, Ballabio A, Andria G. Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. American Journal of Medical Genetics. 57: 476-8. PMID 7677154 DOI: 10.1002/Ajmg.1320570323  0.35
1995 Rugarli EI, Adler DA, Borsani G, Tsuchiya K, Franco B, Hauge X, Disteche C, Chapman V, Ballabio A. Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nature Genetics. 10: 466-71. PMID 7670496 DOI: 10.1038/Ng0895-466  0.307
1995 Borsani G, Rugarli EI, Taglialatela M, Wong C, Ballabio A. Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein. Genomics. 27: 131-41. PMID 7665160 DOI: 10.1006/Geno.1995.1015  0.346
1995 Bassi MT, Schiaffino MV, Renieri A, Nigris FD, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome Nature Genetics. 10: 13-19. PMID 7647783 DOI: 10.1038/Ng0595-13  0.37
1995 Wang I, Franco B, Ferrero GB, Chinault AC, Weissenbach J, Chumakov I, Le Paslier D, Levilliers J, Klink A, Rappold GA, Ballabio A, Petit C. High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). Genomics. 26: 229-38. PMID 7601447 DOI: 10.1016/0888-7543(95)80205-Z  0.303
1995 Rugarli EI, Ballabio A. Reelin: a novel extracellular matrix protein involved in brain lamination. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 17: 832-4. PMID 7487964 DOI: 10.1002/Bies.950171003  0.318
1994 Lee WC, Ferrero GB, Chinault AC, Yen PH, Ballabio A. A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. Genomics. 18: 1-6. PMID 8276392 DOI: 10.1006/Geno.1993.1419  0.31
1994 Jensen TG, Jensen UB, Jensen PK, Ibsen HH, Brandrup F, Ballabio A, Bolund L. Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis. Experimental Cell Research. 209: 392-7. PMID 8262159 DOI: 10.1006/Excr.1993.1326  0.345
1994 van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Human Molecular Genetics. 3: 547-52. PMID 8069296 DOI: 10.1093/Hmg/3.4.547  0.354
1994 Wapenaar MC, Schiaffino MV, Bassi MT, Schaefer L, Chinault AC, Zoghbi HY, Ballabio A. A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. Human Molecular Genetics. 3: 1155-61. PMID 7981686 DOI: 10.1093/Hmg/3.7.1155  0.335
1993 Lutz B, Rugarli EI, Eichele G, Ballabio A. X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system? Febs Letters. 325: 128-34. PMID 8513884 DOI: 10.1016/0014-5793(93)81428-3  0.323
1993 Rugarli EI, Lutz B, Kuratani SC, Wawersik S, Borsani G, Ballabio A, Eichele G. Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nature Genetics. 4: 19-26. PMID 8513320 DOI: 10.1038/Ng0593-19  0.323
1993 Marino M, Archidiacono N, Franzé A, Rosati M, Rocchi M, Ballabio A, Grimaldi G. A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression Mammalian Genome. 4: 252-257. PMID 8507979 DOI: 10.1007/Bf00417431  0.36
1993 Daniele A, Russo T, Ballabio A, Dinatale P. The Mouse Iduronate Sulfatase Gene: Identification of a Novel Transcript Biochemical and Biophysical Research Communications. 194: 1030-1037. PMID 8352760 DOI: 10.1006/Bbrc.1993.1925  0.318
1993 Daniele A, Faust CJ, Herman GE, Di Natale P, Ballabio A. Cloning and characterization of the cDNA for the murine iduronate sulfatase gene. Genomics. 16: 755-7. PMID 8325651 DOI: 10.1006/Geno.1993.1259  0.342
1993 Incerti B, Guioli S, Pragliola A, Zanaria E, Borsani G, Tonlorenzi R, Bardoni B, Franco B, Wheeler D, Ballabio A. Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nature Genetics. 2: 311-4. PMID 1303285 DOI: 10.1038/Ng1292-311  0.322
1993 Ballabio A, Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Human Molecular Genetics. 1: 221-7. PMID 1303191 DOI: 10.1093/Hmg/1.4.221  0.316
1993 Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, Taylor K, Ballabio A, Camerino G. Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nature Genetics. 1: 337-40. PMID 1302031 DOI: 10.1038/Ng0892-337  0.352
1993 Ballabio A, Rugarli E, Lutz B, Kuratani S, Wawersik S, Borsani G, Eichele G. KALLMANN SYNDROME: A DEFECT IN NEURAL TARGET RECOGNITION Pediatric Research. 33: S5-S5. DOI: 10.1203/00006450-199305001-00021  0.347
1993 Borsani G, Ballabio A. X chromosome gene dosage compensation in female mammals Seminars in Developmental Biology. 4: 129-139. DOI: 10.1006/Sedb.1993.1015  0.32
1992 Ballabio A. Contiguous deletion syndromes. Current Opinion in Genetics & Development. 1: 25-9. PMID 1840874 DOI: 10.1016/0959-437X(91)80036-L  0.349
1992 Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P. Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. American Journal of Medical Genetics. 41: 184-7. PMID 1785631 DOI: 10.1002/Ajmg.1320410210  0.363
1992 Carrozzo R, Ellison J, Yen P, Taillon-Miller P, Brownstein BH, Persico G, Ballabio A, Shapiro L. Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene. Genomics. 12: 7-12. PMID 1733866 DOI: 10.1016/0888-7543(92)90399-D  0.356
1992 Palmieri G, Capra V, Romano G, D'Urso M, Johnson S, Schlessinger D, Morris P, Hopwood J, Di Natale P, Gatti R, Ballabio A. The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome. Genomics. 12: 52-7. PMID 1733863 DOI: 10.1016/0888-7543(92)90405-H  0.365
1992 Bernatowicz LF, Li XM, Carrozzo R, Ballabio A, Mohandas T, Yen PH, Shapiro LJ. Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. Genomics. 13: 892-3. PMID 1639422 DOI: 10.1016/0888-7543(92)90179-V  0.361
1992 Grompe M, Pieretti M, Caskey CT, Ballabio A. The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. Genomics. 12: 755-60. PMID 1572648 DOI: 10.1016/0888-7543(92)90306-D  0.311
1992 Ballabio A, Willard HF. Mammalian X-chromosome inactivation and the XIST gene Current Opinion in Genetics and Development. 2: 439-447. PMID 1504619 DOI: 10.1016/0960-9822(92)90082-L  0.314
1992 Ballabio A, Camerino G. The gene for X-linked Kallmann syndrome: a human neuronal migration defect. Current Opinion in Genetics & Development. 2: 417-21. PMID 1504616 DOI: 10.1016/S0959-437X(05)80152-2  0.349
1992 Ballabio A, Camerino G. The gene for X-linked Kallmann syndrome: a human neuronal migration defect Current Biology. 2: 366. DOI: 10.1016/0960-9822(92)90066-J  0.314
1991 Borsani G, Tonlorenzi R, Simmler MC, Dandolo L, Arnaud D, Capra V, Grompe M, Pizzuti A, Muzny D, Lawrence C, Willard HF, Avner P, Ballabio A. Characterization of a murine gene expressed from the inactive X chromosome Nature. 351: 325-329. PMID 2034278 DOI: 10.1038/351325A0  0.354
1991 Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome Nature. 349: 38-44. PMID 1985261 DOI: 10.1038/349038A0  0.326
1991 Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Graziella Persico M, Camerino G, ... Ballabio A, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 353: 529-36. PMID 1922361 DOI: 10.1038/353529A0  0.354
1990 Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proceedings of the National Academy of Sciences of the United States of America. 86: 10001-5. PMID 2602357 DOI: 10.1073/Pnas.86.24.10001  0.355
1990 Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Human Genetics. 84: 571-3. PMID 2338343 DOI: 10.1007/Bf00210812  0.304
1989 Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics. 4: 36-40. PMID 2644167 DOI: 10.1016/0888-7543(89)90311-X  0.359
1988 Ballabio A, Sebastio G, Carrozzo R, Parenti G, Piccirillo A, Persico MG, Andria G. Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome. Human Genetics. 77: 338-41. PMID 3480263 DOI: 10.1007/Bf00291422  0.365
1988 Chase DS, Morris AH, Ballabio A, Pepper S, Giannelli F, Adinolfi M. Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis. Annals of Human Genetics. 50: 349-60. PMID 3126700 DOI: 10.1111/J.1469-1809.1986.Tb01756.X  0.317
1987 Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, Fraser N, Craig I, Rocchi M, Romeo G. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proceedings of the National Academy of Sciences of the United States of America. 84: 4519-23. PMID 3474618 DOI: 10.1073/Pnas.84.13.4519  0.305
1987 Ballabio A, Carrozzo R, Parenti G, Sebastio G, Persico MG, Andria G. CLINICAL SPECTRUM AND MOLECULAR BASIS OF STEROID SULPHATASE DEFICIENCY Pediatric Research. 22: 238-238. DOI: 10.1203/00006450-198708000-00148  0.333
1986 Ballabio A, Parenti G, Tippett P, Mondello C, Di Maio S, Tenore A, Andria G. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Human Genetics. 72: 237-40. PMID 3007328 DOI: 10.1007/Bf00291885  0.308
1985 Ballabio A, Parenti G, Napolitano E, Di Natale P, Andria G. Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. Human Genetics. 70: 315-7. PMID 3860470 DOI: 10.1007/Bf00295367  0.311
Low-probability matches (unlikely to be authored by this person)
1991 Ballabio A, Bardoni B, Guioli S, Basler E, Camerino G. Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics. 8: 263-70. PMID 2249849 DOI: 10.1016/0888-7543(90)90281-X  0.3
1992 Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. The New England Journal of Medicine. 326: 1752-5. PMID 1594017 DOI: 10.1056/Nejm199206253262606  0.299
1992 Worley KC, Towbin JA, Zhu XM, Barker DF, Ballabio A, Chamberlain J, Biesecker LG, Blethen SL, Brosnan P, Fox JE. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics. 13: 957-61. PMID 1505987 DOI: 10.1016/0888-7543(92)90007-F  0.299
1994 Casey B, Devoto M, Jones KL, Ballabio A. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nature Genetics. 5: 403-7. PMID 8298651 DOI: 10.1038/Ng1293-403  0.298
1991 Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF. Localization of the X inactivation centre on the human X chromosome in Xq13 Nature. 349: 82-84. PMID 1985270 DOI: 10.1038/349082A0  0.298
1991 Nelson DL, Ballabio A, Victoria MF, Pieretti M, Bies RD, Gibbs RA, Maley JA, Chinault AC, Webster TD, Caskey CT. Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proceedings of the National Academy of Sciences of the United States of America. 88: 6157-61. PMID 2068096 DOI: 10.1073/Pnas.88.14.6157  0.298
1998 Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Erratum: Opiz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain (American Journal of Human Genetics (September 1998) 63 (703-710)) American Journal of Human Genetics. 63. DOI: 10.1086/302128  0.297
2019 Javaheri A, Bajpai G, Picataggi A, Mani S, Foroughi L, Evie H, Kovacs A, Weinheimer CJ, Hyrc K, Xiao Q, Ballabio A, Lee JM, Matkovich SJ, Razani B, Schilling JD, et al. TFEB activation in macrophages attenuates postmyocardial infarction ventricular dysfunction independently of ATG5-mediated autophagy. Jci Insight. 4. PMID 31672943 DOI: 10.1172/Jci.Insight.127312  0.296
2015 Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annual Review of Medicine. 66: 471-86. PMID 25587658 DOI: 10.1146/Annurev-Med-122313-085916  0.296
2011 Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina DL, Settembre C, Gavina M, Raia V, Ballabio A, Maiuri L. Cystic fibrosis: a disorder with defective autophagy. Autophagy. 7: 104-6. PMID 21048426 DOI: 10.4161/Auto.7.1.13987  0.295
1990 Sebastio C, Guzzetta V, De Vizia B, Ballabio A, Boll W, Mantei N, Semenza G, Auricchio S. GENETIC STUDY OF HUMAN ADULT-TYPE HYPOLACTASIA BY ANALYSIS OF RESTRICTION FRAGMENT LENCHT POLYMORPHISHS (RFLPs) OF THE LACTASE GENE Pediatric Research. 27: 532-532. DOI: 10.1203/00006450-199005000-00042  0.295
1998 Cox TC, Cox LL, Ballabio A. A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region. European Journal of Human Genetics : Ejhg. 6: 406-12. PMID 9781050 DOI: 10.1038/Sj.Ejhg.5200203  0.295
2017 Galluzzi L, Baehrecke EH, Ballabio A, Boya P, Bravo-San Pedro JM, Cecconi F, Choi AM, Chu CT, Codogno P, Colombo MI, Cuervo AM, Debnath J, Deretic V, Dikic I, Eskelinen EL, et al. Molecular definitions of autophagy and related processes. The Embo Journal. PMID 28596378 DOI: 10.15252/Embj.201796697  0.294
1999 Volorio S, Simon G, Repetto M, Cucciardi M, Banfi S, Borsani G, Ballabio A, Zollo M. Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein. Dna Sequence : the Journal of Dna Sequencing and Mapping. 9: 307-15. PMID 10524757 DOI: 10.3109/10425179809008469  0.293
2006 Ballabio A, Nelson D, Rozen S. Genetics of disease The sex chromosomes and human disease. Current Opinion in Genetics & Development. 16: 209-12. PMID 16650757 DOI: 10.1016/J.Gde.2006.04.016  0.292
1992 Wapenaar MC, Petit C, Basler E, Ballabio A, Henke A, Rappold GA, van Paassen HM, Blonden LA, van Ommen GJ. Physical mapping of 14 new DNA markers isolated from the human distal Xp region. Genomics. 13: 167-75. PMID 1349572 DOI: 10.1016/0888-7543(92)90217-G  0.292
1990 Ross MT, Ballabio A, Craig IW. Long-range physical mapping around the human steroid sulfatase locus. Genomics. 6: 528-39. PMID 2328992 DOI: 10.1016/0888-7543(90)90482-A  0.292
1988 Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G. X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. Clinical Genetics. 34: 31-7. PMID 3165728 DOI: 10.1111/J.1399-0004.1988.Tb02612.X  0.292
1992 Bardoni B, Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi MG, Fraccaro M, Camerino G. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics. 11: 443-51. PMID 1769656 DOI: 10.1016/0888-7543(91)90153-6  0.292
2016 Mansueto G, Armani A, Viscomi C, D'Orsi L, De Cegli R, Polishchuk EV, Lamperti C, Di Meo I, Romanello V, Marchet S, Saha PK, Zong H, Blaauw B, Solagna F, Tezze C, ... ... Ballabio A, et al. Transcription Factor EB Controls Metabolic Flexibility during Exercise. Cell Metabolism. PMID 28011087 DOI: 10.1016/J.Cmet.2016.11.003  0.291
1998 Borsani G, Ballabio A, Banfi S. A practical guide to orient yourself in the labyrinth of genome databases. Human Molecular Genetics. 7: 1641-8. PMID 9735386 DOI: 10.1093/Hmg/7.10.1641  0.29
2006 Hagens O, Ballabio A, Kalscheuer V, Kraehenbuhl JP, Schiaffino MV, Smith P, Staub O, Hildebrand J, Wallingford JB. A new standard nomenclature for proteins related to Apx and Shroom. Bmc Cell Biology. 7: 18. PMID 16615870 DOI: 10.1186/1471-2121-7-18  0.289
2012 Di Malta C, Fryer JD, Settembre C, Ballabio A. Autophagy in astrocytes: a novel culprit in lysosomal storage disorders. Autophagy. 8: 1871-2. PMID 23047468 DOI: 10.4161/Auto.22184  0.289
1984 Andria G, Ballabio A, Parenti G, Di Maio S, Piccirillo A. Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'. Journal of Inherited Metabolic Disease. 159-60. PMID 6434878 DOI: 10.1007/978-94-009-5612-4_54  0.289
2015 Medina DL, Ballabio A. Lysosomal calcium regulates autophagy. Autophagy. 11: 970-1. PMID 26000950 DOI: 10.1080/15548627.2015.1047130  0.288
2020 Xu Y, Du S, Marsh JA, Horie K, Sato C, Ballabio A, Karch CM, Holtzman DM, Zheng H. TFEB regulates lysosomal exocytosis of tau and its loss of function exacerbates tau pathology and spreading. Molecular Psychiatry. PMID 32366951 DOI: 10.1038/S41380-020-0738-0  0.288
2002 den Hollander AI, Ghiani M, de Kok YJ, Wijnholds J, Ballabio A, Cremers FP, Broccoli V. Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain. Mechanisms of Development. 110: 203-7. PMID 11744384 DOI: 10.1016/S0925-4773(01)00568-8  0.288
2017 Bretou M, Sáez PJ, Sanséau D, Maurin M, Lankar D, Chabaud M, Spampanato C, Malbec O, Barbier L, Muallem S, Maiuri P, Ballabio A, Helft J, Piel M, Vargas P, et al. Lysosome signaling controls the migration of dendritic cells. Science Immunology. 2. PMID 29079589 DOI: 10.1126/Sciimmunol.Aak9573  0.288
2016 Pastore N, Brady OA, Diab HI, Martina JA, Sun L, Huynh T, Lim JA, Zare H, Raben N, Ballabio A, Puertollano R. TFEB and TFE3 Cooperate in the Regulation of the Innate Immune Response in Activated Macrophages. Autophagy. 0. PMID 27171064 DOI: 10.1080/15548627.2016.1179405  0.287
2008 Klionsky DJ, Abeliovich H, Agostinis P, Agrawal DK, Aliev G, Askew DS, Baba M, Baehrecke EH, Bahr BA, Ballabio A, Bamber BA, Bassham DC, Bergamini E, Bi X, Biard-Piechaczyk M, et al. Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy. 4: 151-75. PMID 18188003 DOI: 10.4161/Auto.5338  0.287
1986 Strisciuglio P, Ballabio A, Parenti G. Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship. Journal of Medical Genetics. 23: 459-60. PMID 3783624 DOI: 10.1136/Jmg.23.5.459  0.287
2018 Rampanelli E, Ochodnicky P, Vissers JPC, Butter LM, Claessen N, Calcagni A, Kors L, Gethings LA, Bakker SJL, de Borst MH, Navis GJ, Liebisch G, Speijer D, van den Bergh Weerman MA, Jung B, ... ... Ballabio A, et al. Excessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney. The Journal of Pathology. PMID 30073645 DOI: 10.1002/Path.5150  0.286
2021 Bordi M, De Cegli R, Testa B, Nixon RA, Ballabio A, Cecconi F. A gene toolbox for monitoring autophagy transcription. Cell Death & Disease. 12: 1044. PMID 34728604 DOI: 10.1038/s41419-021-04121-9  0.286
2012 Arteaga-Solis E, Settembre C, Ballabio A, Karsenty G. Sulfatases are determinants of alveolar formation. Matrix Biology : Journal of the International Society For Matrix Biology. 31: 253-60. PMID 22366163 DOI: 10.1016/J.Matbio.2012.02.001  0.284
2001 Ahmad W, Noci S, Faiyaz ul Haque M, Sarno T, Aridon P, Ahmad MM, Amin-Ud-Din M, Rafiq MA, ul Haque S, De Fusco M, Ballabio A, Franco B, Casari G. Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. American Journal of Medical Genetics. 100: 62-5. PMID 11337751 DOI: 10.1002/1096-8628(20010415)100:1<62::Aid-Ajmg1190>3.0.Co;2-H  0.284
1996 Dinulos MB, Bassi MT, Rugarli EI, Chapman V, Ballabio A, Disteche CM. A new region of conservation is defined between human and mouse X chromosomes. Genomics. 35: 244-7. PMID 8661129 DOI: 10.1006/Geno.1996.0347  0.283
2001 Forus A, D'Angelo A, Henriksen J, Merla G, Maelandsmo GM, Flørenes VA, Olivieri S, Bjerkehagen B, Meza-Zepeda LA, del Vecchio Blanco F, Müller C, Sanvito F, Kononen J, Nesland JM, Fodstad Ø, ... ... Ballabio A, et al. Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas-a possible mechanism for altering the nm23-H1 activity. Oncogene. 20: 6881-90. PMID 11687967 DOI: 10.1038/Sj.Onc.1204874  0.282
2018 Chao X, Wang S, Zhao K, Li Y, Williams JA, Li T, Chavan H, Krishnamurthy P, He XC, Li L, Ballabio A, Ni HM, Ding WX. Impaired TFEB-mediated Lysosome Biogenesis and Autophagy Promote Chronic Ethanol-induced Liver Injury and Steatosis in Mice. Gastroenterology. PMID 29782848 DOI: 10.1053/J.Gastro.2018.05.027  0.282
2015 Xiao Q, Yan P, Ma X, Liu H, Perez R, Zhu A, Gonzales E, Tripoli DL, Czerniewski L, Ballabio A, Cirrito JR, Diwan A, Lee JM. Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing Aβ Generation and Amyloid Plaque Pathogenesis. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 35: 12137-51. PMID 26338325 DOI: 10.1523/Jneurosci.0705-15.2015  0.281
1995 Renieri A, Galli L, Zhou J, Ballabio A, De Marchi M. A Bg/II polymorphism in the COL4A6 gene. Human Molecular Genetics. 3: 1914. PMID 7849730 DOI: 10.1093/Hmg/3.10.1914-A  0.278
2013 Simon AK, Ballabio A. T. rex attacks the lysosome. Nature Immunology. 14: 10-2. PMID 23238750 DOI: 10.1038/Ni.2497  0.277
1989 Ballabio A, Carrozzo R, Gil A, Gillard B, Affara N, Ferguson-Smith MA, Fraser N, Craig I, Rocchi M, Romeo G. Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq. Annals of Human Genetics. 53: 9-14. PMID 2729897 DOI: 10.1111/J.1469-1809.1989.Tb01117.X  0.277
1994 Yen PH, Ferrero GB, Chinault AC, Mohandas T, Ballabio A. Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency. Human Mutation. 4: 76-8. PMID 7951263 DOI: 10.1002/Humu.1380040114  0.276
2009 Ballabio A. 10. Impairment of autophagy in lysosomal storage diseases Molecular Genetics and Metabolism. 96: S14. DOI: 10.1016/J.Ymgme.2008.11.011  0.275
2019 Arotcarena ML, Bourdenx M, Dutheil N, Thiolat ML, Doudnikoff E, Dovero S, Ballabio A, Fernagut PO, Meissner WG, Bezard E, Dehay B. Transcription factor EB overexpression prevents neurodegeneration in experimental synucleinopathies. Jci Insight. 4. PMID 31434803 DOI: 10.1172/Jci.Insight.129719  0.274
2016 Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, Cosma MP. Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. The Embo Journal. 35: 2614-2615. PMID 27908960 DOI: 10.15252/Embj.201670020  0.274
1996 Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G. Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics. 35: 486-93. PMID 8812482 DOI: 10.1006/Geno.1996.0388  0.273
2011 Bousquet J, Anto JM, Sterk PJ, Adcock IM, Chung KF, Roca J, Agusti A, Brightling C, Cambon-Thomsen A, Cesario A, Abdelhak S, Antonarakis SE, Avignon A, Ballabio A, Baraldi E, et al. Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Medicine. 3: 43. PMID 21745417 DOI: 10.1186/Gm259  0.272
2007 Yiş U, Pepe S, Ballabio A, Cosma M, Dirik E. MLP06 Multiple sulfatase deficiency: a report of two new cases resulting from a novel mutation European Journal of Paediatric Neurology. 11: 68. DOI: 10.1016/S1090-3798(08)70506-3  0.268
2001 Gambardella A, Annesi G, De Fusco M, Patrignani A, Aguglia U, Annesi F, Pasqua AA, Spadafora P, Oliveri RL, Valentino P, Zappia M, Ballabio A, Casari G, Quattrone A. A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology. 55: 1467-71. PMID 11094099 DOI: 10.1212/Wnl.55.10.1467  0.268
2002 Berti C, Messali S, Ballabio A, Reymond A, Meroni G. TRIM9 is specifically expressed in the embryonic and adult nervous system. Mechanisms of Development. 113: 159-62. PMID 11960705 DOI: 10.1016/S0925-4773(02)00013-8  0.267
1999 Ahmad W, De Fusco M, Faiyaz ul Haque M, Aridon P, Sarno T, Sohail M, ul Haque S, Ahmad M, Ballabio A, Franco B, Casari G. Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. European Journal of Human Genetics : Ejhg. 7: 828-32. PMID 10573017 DOI: 10.1038/Sj.Ejhg.5200376  0.267
1984 Andria G, Ballabio A, Parenti G, DiMaio S, Piccirillo A. Steroid sulphatase deficiency and hypogonadism. European Journal of Pediatrics. 142: 304-5. PMID 6489382 DOI: 10.1007/Bf00540260  0.266
2016 D'Assante R, Fusco A, Palamaro L, Polishchuk E, Polishchuk R, Bianchino G, Grieco V, Prencipe MR, Ballabio A, Pignata C. Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia. Clinical Immunology (Orlando, Fla.). 175: 16-25. PMID 27915003 DOI: 10.1016/j.clim.2016.11.015  0.265
1994 Leach RJ, Chinn R, Reus BE, Hayes S, Schantz L, Dubois B, Overhauser J, Ballabio A, Drabkin H, Lewis TB. Regional localization of 188 sequence tagged sites on a somatic cell hybrid mapping panel for human chromosome 3. Genomics. 24: 549-56. PMID 7713507 DOI: 10.1006/Geno.1994.1665  0.265
2010 Ballabio A. Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. International Journal of Clinical Pharmacology and Therapeutics. S34-8. PMID 20040309 DOI: 10.5414/CPP47034  0.264
1991 Bick D, Ballabio A. Chromosome abnormalities in and pathogenesis of Kallmann syndrome. American Journal of Medical Genetics. 37: 298. PMID 2082963 DOI: 10.1002/Ajmg.1320370236  0.263
2017 Medina DL, Settembre C, Ballabio A. Methods to Monitor and Manipulate TFEB Activity During Autophagy. Methods in Enzymology. 588: 61-78. PMID 28237119 DOI: 10.1016/bs.mie.2016.10.008  0.262
1987 Sebastio G, Hunziker W, Ballabio A, Auricchio S, Semenza G. On the primary site of control in the spontaneous development of small-intestinal sucrase-isomaltase after birth. Febs Letters. 208: 460-4. PMID 3780983 DOI: 10.1016/0014-5793(86)81069-9  0.262
1996 MacKenzie JJ, Fitzpatrick J, Babyn P, Ferrero GB, Ballabio A, Billingsley G, Bulman DE, Strasberg P, Ray PN, Costa T. X linked spondyloepiphyseal dysplasia: A clinical, radiological, and molecular study of a large kindred Journal of Medical Genetics. 33: 823-828. PMID 8933334 DOI: 10.1136/Jmg.33.10.823  0.261
2019 Carballo-Carbajal I, Laguna A, Romero-Giménez J, Cuadros T, Bové J, Martinez-Vicente M, Parent A, Gonzalez-Sepulveda M, Peñuelas N, Torra A, Rodríguez-Galván B, Ballabio A, Hasegawa T, Bortolozzi A, Gelpi E, et al. Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson's disease pathogenesis. Nature Communications. 10: 973. PMID 30846695 DOI: 10.1038/S41467-019-08858-Y  0.257
1987 Andria G, Ballabio A, Parenti G. X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia. Annals of Neurology. 22: 98-9. PMID 3477126 DOI: 10.1002/Ana.410220130  0.256
1994 Bassi MT, Bergen AA, Wapenaar MC, Schiaffino MV, van Schooneveld M, Yates JR, Charles SJ, Meitinger T, Ballabio A. A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). Human Molecular Genetics. 3: 647-8. PMID 8069311 DOI: 10.1093/Hmg/3.4.647  0.255
2018 Di Malta C, Ballabio A. Transcriptional regulation of mTORC1 in cancer. Oncotarget. 9: 36734-36735. PMID 30613362 DOI: 10.18632/Oncotarget.26229  0.254
1998 Rubboli F, Bulfone A, Bogni S, Marchitiello A, Zollo M, Borsani G, Ballabio A, Banfi S. A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. Genes and Function. 1: 205-13. PMID 9680295 DOI: 10.1046/J.1365-4624.1997.00015.X  0.254
1988 Andria G, Ballabio A, Parenti G. More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia. Annals of Neurology. 23: 103. PMID 3422798 DOI: 10.1002/Ana.410230124  0.252
2023 Sambri I, Ferniani M, Campostrini G, Testa M, Meraviglia V, de Araujo MEG, Dokládal L, Vilardo C, Monfregola J, Zampelli N, Vecchio Blanco FD, Torella A, Ruosi C, Fecarotta S, Parenti G, ... ... Ballabio A, et al. RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome. Nature Communications. 14: 2775. PMID 37188688 DOI: 10.1038/s41467-023-38428-2  0.248
2013 Serio G, Zampatti C, Ballabio A, Ricci R, Martini M, Zurleni F. Neurofibromatosis 1 presenting with multiple duodenal GISTS associated with a somatostatin-producing D cell neoplasm. Endocrine Pathology. 24: 100-5. PMID 23564025 DOI: 10.1007/S12022-013-9239-X  0.246
1999 Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nature Genetics. 21: 297-301. PMID 10080183 DOI: 10.1038/6815  0.244
2000 Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I. Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. American Journal of Human Genetics. 64: 1216-21. PMID 10090908 DOI: 10.1086/302329  0.241
2004 Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, Auricchio A, Piemonte F, Tozzi G, Gaeta L, Casari G, Ballabio A, Rugarli EI. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. The Journal of Clinical Investigation. 113: 231-42. PMID 14722615 DOI: 10.1172/Jci20138  0.24
1988 Piccirillo A, Auricchio L, Fabbrocini G, Parenti G, Ballabio A, Delfino M. Ocular findings and skin histology in a group of patients with X-linked ichthyosis. The British Journal of Dermatology. 119: 185-8. PMID 3166940 DOI: 10.1111/J.1365-2133.1988.Tb03200.X  0.238
2021 Parenti G, Medina DL, Ballabio A. The rapidly evolving view of lysosomal storage diseases. Embo Molecular Medicine. e12836. PMID 33459519 DOI: 10.15252/emmm.202012836  0.235
2023 Cesana M, Tufano G, Panariello F, Zampelli N, Ambrosio S, De Cegli R, Mutarelli M, Vaccaro L, Ziller MJ, Cacchiarelli D, Medina DL, Ballabio A. EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation. Plos Biology. 21: e3002034. PMID 36888606 DOI: 10.1371/journal.pbio.3002034  0.234
1997 Repetto M, Ballabio A, Zollo M. A method to direct sequence cosmid LAWRIST16 clones. Dna Sequence : the Journal of Dna Sequencing and Mapping. 7: 229-33. PMID 9254019 DOI: 10.3109/10425179709034041  0.229
1988 Parenti G, Ballabio A, Hoogeveen AT, Van der Loos CM, Jobsis AC, Andria G. Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. Journal of Inherited Metabolic Disease. 10: 224-8. PMID 3123779 DOI: 10.1007/Bf01800065  0.228
1998 Renieri A, Bruttini M, Piccini M, Bruno M, Cecconi M, Conti M, Coppo R, La Manna A, Trivelli A, De Marchi M, Ballabio A. Molecular diagnosis of Alport syndrome: the experience in Siena. Contributions to Nephrology. 122: 132-3. PMID 9399055 DOI: 10.1159/000059882  0.225
1987 Sebastio G, Hunziker W, Ballabio A, Maiuri L, Auricchio S, Semenza G. 15. ON THE PRIMARY SITE OF CONTROL IN SPONTANEOUS AND IN GLUCOCORTICOID-TRIGGERED PRECOCIOUS DEVELOPMENT OF SMALL-INTESTINAL SUCRASE-ISOMALTASE COMPLEX Pediatric Research. 22: 98-98. DOI: 10.1203/00006450-198707000-00036  0.224
1993 Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, Zoghbi HY. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Human Molecular Genetics. 2: 947-52. PMID 8364577  0.223
2023 Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio G, Huynh T, Monfregola J, Esposito A, Cirillo C, Bajic A, Zahabiyon M, Curnock R, Polishchuk E, Parkitny L, ... ... Ballabio A, et al. Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation. Nature Communications. 14: 3911. PMID 37400440 DOI: 10.1038/s41467-023-39643-7  0.223
2023 Daly JL, Danson CM, Lewis PA, Zhao L, Riccardo S, Di Filippo L, Cacchiarelli D, Lee D, Cross SJ, Heesom KJ, Xiong WC, Ballabio A, Edgar JR, Cullen PJ. Multi-omic approach characterises the neuroprotective role of retromer in regulating lysosomal health. Nature Communications. 14: 3086. PMID 37248224 DOI: 10.1038/s41467-023-38719-8  0.222
1997 Crippa M, Repetto M, Volorio S, Cucciardi M, Ballabio A, Zollo M. A semi-automated method for preparing high-quality plasmid templates in 96-well format ready for automated DNA sequencing Technical Tips Online. 2: 184-187. DOI: 10.1016/S1366-2120(08)70080-1  0.222
1990 Ballabio A, Gibbs RA, Caskey CT. PCR test for cystic fibrosis deletion. Nature. 343: 220. PMID 2300168 DOI: 10.1038/343220A0  0.221
2015 Ballabio A, Naldini L. Fighting rare diseases: the model of the telethon research institutes in Italy. Human Gene Therapy. 26: 183-5. PMID 25901396 DOI: 10.1089/Hum.2015.2501  0.22
2018 Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti N, De Castro M, Ficicioglu C, Finglas A, Kirmse B, Lee M, Olsen A, Vanderver A, Adang L. Complex care of patients with multiple sulfatase deficiency: Clinical cases and guideline consensus statement Molecular Genetics and Metabolism. 123: S17. DOI: 10.1016/J.Ymgme.2017.12.017  0.216
2015 Schulz A, Di Fruscio G, Braulke T, Nigro V, Ballabio A. LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases Neuropediatrics. 46. DOI: 10.1055/s-0035-1550649  0.216
2014 Nur BG, Mıhçı E, Pepe S, Biberoğlu G, Ezgü FS, Ballabio A, Öztekin O, Dursun O. Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature Turkish Journal of Pediatrics. 56: 418-422. PMID 25818962  0.216
2020 Napolitano G, Di Malta C, Esposito A, de Araujo MEG, Pece S, Bertalot G, Matarese M, Benedetti V, Zampelli A, Stasyk T, Siciliano D, Venuta A, Cesana M, Vilardo C, Nusco E, ... ... Ballabio A, et al. A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome. Nature. PMID 32612235 DOI: 10.1038/s41586-020-2444-0  0.215
2021 Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK, Paquet D, Grimm CM, Montefusco S, Braulke T, Storch S, ... ... Ballabio A, et al. Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype. Embo Molecular Medicine. e13742. PMID 34411438 DOI: 10.15252/emmm.202013742  0.215
2021 Klionsky DJ, Petroni G, Amaravadi RK, Baehrecke EH, Ballabio A, Boya P, Bravo-San Pedro JM, Cadwell K, Cecconi F, Choi AMK, Choi ME, Chu CT, Codogno P, Colombo MI, Cuervo AM, et al. Autophagy in major human diseases. The Embo Journal. e108863. PMID 34459017 DOI: 10.15252/embj.2021108863  0.215
1991 Pieretti M, Tonlorenzi R, Ballabio A. Rapid assembly of lambda phage contigs within YAC clones. Nucleic Acids Research. 19: 2795-6. PMID 1828295 DOI: 10.1093/Nar/19.10.2795  0.212
2023 Chao X, Niu M, Wang S, Ma X, Yang X, Sun H, Hu X, Wang H, Zhang L, Huang R, Xia M, Ballabio A, Jaeschke H, Ni HM, Ding WX. High-throughput screening of novel TFEB agonists in protecting against acetaminophen-induced liver injury in mice. Acta Pharmaceutica Sinica. B. 14: 190-206. PMID 38261809 DOI: 10.1016/j.apsb.2023.10.017  0.207
2022 Sorrentino NC, Presa M, Attanasio S, Cacace V, Sofia M, Zuberi A, Ryan J, Ray S, Petkovic I, Radhakrishnan K, Schlotawa L, Ballabio A, Lutz C, Brunetti-Pierri N. New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of Multiple Sulfatase Deficiency. Journal of Inherited Metabolic Disease. PMID 36433920 DOI: 10.1002/jimd.12577  0.207
2023 Di Malta C, Zampelli A, Granieri L, Vilardo C, De Cegli R, Cinque L, Nusco E, Pece S, Tosoni D, Sanguedolce F, Sorrentino NC, Merino MJ, Nielsen D, Srinivasan R, Ball MW, ... ... Ballabio A, et al. TFEB and TFE3 drive kidney cystogenesis and tumorigenesis. Embo Molecular Medicine. e16877. PMID 36987696 DOI: 10.15252/emmm.202216877  0.204
2007 Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G. Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Molecular Therapy : the Journal of the American Society of Gene Therapy. 15: 508-14. PMID 17213836 DOI: 10.1038/sj.mt.6300074  0.203
1995 Ballabio A. The rise and fall of positional cloning? Nature Genetics. 3: 277-9. PMID 7981743 DOI: 10.1038/Ng0493-277  0.202
2022 Astanina E, Doronzo G, Corà D, Neri F, Oliviero S, Genova T, Mussano F, Middonti E, Vallariello E, Cencioni C, Valdembri D, Serini G, Limana F, Foglio E, Ballabio A, et al. The TFEB-TGIF1 axis regulates EMT in mouse epicardial cells. Nature Communications. 13: 5191. PMID 36057632 DOI: 10.1038/s41467-022-32855-3  0.202
2002 Rugarli EI, Di Schiavi E, Hilliard MA, Arbucci S, Ghezzi C, Facciolli A, Coppola G, Ballabio A, Bazzicalupo P. The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. Development (Cambridge, England). 129: 1283-94. PMID 11874923  0.201
2022 Fernandez MR, Schaub FX, Yang C, Li W, Yun S, Schaub SK, Dorsey FC, Liu M, Steeves MA, Ballabio A, Tzankov A, Chen Z, Koomen JM, Berglund AE, Cleveland JL. Disrupting the MYC-TFEB Circuit Impairs Amino Acid Homeostasis and Provokes Metabolic Anergy. Cancer Research. PMID 35149590 DOI: 10.1158/0008-5472.CAN-21-1168  0.2
2023 Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregula J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, ... Ballabio A, et al. Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. Embo Molecular Medicine. e14837. PMID 36789546 DOI: 10.15252/emmm.202114837  0.2
2021 Yun S, Vincelette ND, Yu X, Watson GW, Fernandez MR, Yang C, Hitosugi T, Cheng CH, Freischel AR, Zhang L, Li W, Hou H, Schaub FX, Vedder AR, Cen L, ... ... Ballabio A, et al. TFEB links MYC signaling to epigenetic control of myeloid differentiation and acute myeloid leukemia. Blood Cancer Discovery. 2: 162-185. PMID 33860275 DOI: 10.1158/2643-3230.bcd-20-0029  0.197
1992 BICK D, FRANCO B, SHERINS RJ, HEYE B, PIKE L, CRAWFORD J, MADDALENA A, INCERTI B, PRAGLIOLA A, MEITINGER T, BALLABIO A. Brief Report Obstetrical & Gynecological Survey. 47: 795-796. DOI: 10.1097/00006254-199211000-00021  0.196
2006 Capotondo A, Venneri MA, Cosma MP, Pallavicini I, Ballabio A, Naldini L, Biffi A. 864. Characterization of Transgenic Mice Over_ Expressing Arylsulfatase A: Implications for Gene Therapy and Sulfatases Activation Mechanisms Molecular Therapy. 13: S332-S333. DOI: 10.1016/J.Ymthe.2006.08.950  0.195
2017 Zurleni T, Cassiano A, Gjoni E, Ballabio A, Serio G, Marzoli L, Zurleni F. Surgical and oncological outcomes after complete mesocolic excision in right-sided colon cancer compared with conventional surgery: a retrospective, single-institution study. International Journal of Colorectal Disease. PMID 29038964 DOI: 10.1007/S00384-017-2917-2  0.194
2020 Cinque L, De Leonibus C, Iavazzo M, Krahmer N, Intartaglia D, Salierno FG, De Cegli R, Di Malta C, Svelto M, Lanzara C, Maddaluno M, Wanderlingh LG, Huebner AK, Cesana M, Bonn F, ... ... Ballabio A, et al. MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B. The Embo Journal. e105696. PMID 32716134 DOI: 10.15252/Embj.2020105696  0.194
2020 Gambardella G, Staiano L, Moretti MN, De Cegli R, Fagnocchi L, Di Tullio G, Polletti S, Braccia C, Armirotti A, Zippo A, Ballabio A, De Matteis MA, di Bernardo D. GADD34 is a modulator of autophagy during starvation. Science Advances. 6. PMID 32978159 DOI: 10.1126/sciadv.abb0205  0.188
2022 Schuster EM, Epple MW, Glaser KM, Mihlan M, Lucht K, Zimmermann JA, Bremser A, Polyzou A, Obier N, Cabezas-Wallscheid N, Trompouki E, Ballabio A, Vogel J, Buescher JM, Westermann AJ, et al. TFEB induces mitochondrial itaconate synthesis to suppress bacterial growth in macrophages. Nature Metabolism. 4: 856-866. PMID 35864246 DOI: 10.1038/s42255-022-00605-w  0.186
2013 Zurleni T, Gjoni E, Ballabio A, Casieri R, Ceriani P, Marzoli L, Zurleni F. Sixth and seventh tumor-node-metastasis staging system compared in gastric cancer patients. World Journal of Gastrointestinal Surgery. 5: 287-93. PMID 24520426 DOI: 10.4240/Wjgs.V5.I11.287  0.185
2019 Perera RM, Malta CD, Ballabio A. MiT/TFE Family of Transcription Factors, Lysosomes, and Cancer. Annual Review of Cancer Biology. 3: 203-222. PMID 31650096 DOI: 10.1146/annurev-cancerbio-030518-055835  0.184
1997 Guffanti A, Banfi S, Simon G, Ballabio A, Borsani G. DRES search engine: of flies, men and ESTs. Trends in Genetics : Tig. 13: 79-80. PMID 9055610 DOI: 10.1016/S0168-9525(97)01015-9  0.182
2021 Yun S, Vincelette ND, Yu X, Watson GW, Fernandez MR, Yang C, Hitosugi T, Cheng CH, Freischel AR, Zhang L, Li W, Hou H, Schaub FX, Vedder AR, Cen L, ... ... Ballabio A, et al. TFEB Links MYC Signaling to Epigenetic Control of Myeloid Differentiation and Acute Myeloid Leukemia. Cancer Discovery. 2: 162-185. PMID 34233272 DOI: 10.1158/2643-3230.BCD-20-0029  0.182
2020 Contreras PS, Tapia PJ, González-Hódar L, Peluso I, Soldati C, Napolitano G, Matarese M, Heras ML, Valls C, Martinez A, Balboa E, Castro J, Leal N, Platt FM, Sobota A, ... ... Ballabio A, et al. c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder. Iscience. 23: 101691. PMID 33163944 DOI: 10.1016/j.isci.2020.101691  0.182
2022 Napolitano G, Di Malta C, Ballabio A. Non-canonical mTORC1 signaling at the lysosome. Trends in Cell Biology. PMID 35654731 DOI: 10.1016/j.tcb.2022.04.012  0.177
2024 Alesi N, Khabibullin D, Rosenthal DM, Akl EW, Cory PM, Alchoueiry M, Salem S, Daou M, Gibbons WF, Chen JA, Zhang L, Filippakis H, Graciotti L, Miceli C, Monfregola J, ... ... Ballabio A, et al. TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex. Nature Communications. 15: 406. PMID 38195686 DOI: 10.1038/s41467-023-44229-4  0.176
2020 Bryk R, Mundhra S, Jiang X, Wood M, Pfau D, Weber E, Park S, Zhang L, Wilson C, Van der Westhuyzen R, Street L, Chibale K, Zimmerman M, Dartois V, Pastore N, ... Ballabio A, et al. Potentiation of rifampin activity in a mouse model of tuberculosis by activation of host transcription factor EB. Plos Pathogens. 16: e1008567. PMID 32574211 DOI: 10.1371/Journal.Ppat.1008567  0.176
2020 Nakamura S, Shigeyama S, Minami S, Shima T, Akayama S, Matsuda T, Esposito A, Napolitano G, Kuma A, Namba-Hamano T, Nakamura J, Yamamoto K, Sasai M, Tokumura A, Miyamoto M, ... ... Ballabio A, et al. LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury. Nature Cell Biology. PMID 32989250 DOI: 10.1038/s41556-020-00583-9  0.176
1992 Ballabio A, Willard HF. Mammalian X-chromosome inactivation and the XIST gene Current Biology. 2: 382. DOI: 10.1016/0960-9822(92)90082-L  0.175
2018 Soria LR, Allegri G, Melck D, Pastore N, Annunziata P, Paris D, Polishchuk E, Nusco E, Thöny B, Motta A, Häberle J, Ballabio A, Brunetti-Pierri N. Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia. Proceedings of the National Academy of Sciences of the United States of America. 115: 391-396. PMID 29279371 DOI: 10.1073/pnas.1714670115  0.174
1996 Ballabio A. Reply to “Breaking laws and obeying rules” Nature Genetics. 12: 121-122. DOI: 10.1038/Ng0296-121B  0.172
2017 Logaldo D, Costantini Brancadoro E, Ballabio A, Zurleni T. Splenic artery transposition graft for hepatic artery aneurysm and occlusion. Annals of Vascular Surgery. PMID 28279726 DOI: 10.1016/J.Avsg.2016.10.045  0.17
2021 Sass F, Schlein C, Jaeckstein MY, Pertzborn P, Schweizer M, Schinke T, Ballabio A, Scheja L, Heeren J, Fischer AW. TFEB-deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality. Molecular Metabolism. 101173. PMID 33516944 DOI: 10.1016/j.molmet.2021.101173  0.17
2021 La Spina M, Azzolini M, Salmaso A, Parrasia S, Galletta E, Schiavone M, Chrisam M, Mattarei A, Di Benedetto G, Ballabio A, Tiso N, Zoratti M, Biasutto L. Multiple Mechanisms Converging on Transcription Factor EB Activation by the Natural Phenol Pterostilbene. Oxidative Medicine and Cellular Longevity. 2021: 7658501. PMID 34992716 DOI: 10.1155/2021/7658501  0.167
2022 Tsujimoto K, Jo T, Nagira D, Konaka H, Park JH, Yoshimura SI, Ninomiya A, Sugihara F, Hirayama T, Itotagawa E, Matsuzaki Y, Takaichi Y, Aoki W, Saita S, Nakamura S, ... Ballabio A, et al. The lysosomal Ragulator complex activates NLRP3 inflammasome in vivo via HDAC6. The Embo Journal. e111389. PMID 36444797 DOI: 10.15252/embj.2022111389  0.166
2020 Pisonero-Vaquero S, Soldati C, Cesana M, Ballabio A, Medina DL. TFEB Modulates p21/WAF1/CIP1 during the DNA Damage Response. Cells. 9. PMID 32397616 DOI: 10.3390/cells9051186  0.162
2023 Cui Z, Napolitano G, de Araujo MEG, Esposito A, Monfregola J, Huber LA, Ballabio A, Hurley JH. Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex. Nature. PMID 36697823 DOI: 10.1038/s41586-022-05652-7  0.157
2022 Grimaldi A, Panariello F, Annunziata P, Giuliano T, Daniele M, Pierri B, Colantuono C, Salvi M, Bouché V, Manfredi A, Cuomo MC, Di Concilio D, Tiberio C, Fiorenza M, Portella G, ... ... Ballabio A, et al. Improved SARS-CoV-2 sequencing surveillance allows the identification of new variants and signatures in infected patients. Genome Medicine. 14: 90. PMID 35962405 DOI: 10.1186/s13073-022-01098-8  0.153
2002 Barbieri AM, Broccoli V, Bovolenta P, Alfano G, Marchitiello A, Mocchetti C, Crippa L, Bulfone A, Marigo V, Ballabio A, Banfi S. Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development (Cambridge, England). 129: 805-13. PMID 11830579  0.152
2023 Nakamura J, Yamamoto T, Takabatake Y, Namba-Hamano T, Minami S, Takahashi A, Matsuda J, Sakai S, Yonishi H, Maeda S, Matsui S, Matsui I, Hamano T, Takahashi M, Goto M, ... ... Ballabio A, et al. TFEB-mediated lysosomal exocytosis alleviates high fat diet-induced lipotoxicity in the kidney. Jci Insight. PMID 36649084 DOI: 10.1172/jci.insight.162498  0.15
2017 Gatto F, Rossi B, Tarallo A, Polishchuk E, Polishchuk R, Carrella A, Nusco E, Alvino FG, Iacobellis F, De Leonibus E, Auricchio A, Diez-Roux G, Ballabio A, Parenti G. AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease. Scientific Reports. 7: 15089. PMID 29118420 DOI: 10.1038/S41598-017-15352-2  0.149
2023 Pasquier A, Pastore N, D'Orsi L, Colonna R, Esposito A, Maffia V, De Cegli R, Mutarelli M, Ambrosio S, Tufano G, Grimaldi A, Cesana M, Cacchiarelli D, Delalleau N, Napolitano G, ... Ballabio A, et al. TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression. The Embo Journal. e113928. PMID 37712288 DOI: 10.15252/embj.2023113928  0.148
2023 Aufiero MA, Shlezinger N, Gjonbalaj M, Mills KAM, Ballabio A, Hohl TM. Dectin-1/CARD9 induction of the TFEB and TFE3 gene network is dispensable for phagocyte anti- activity in the lung. Infection and Immunity. e0021723. PMID 37861312 DOI: 10.1128/iai.00217-23  0.147
2023 Zhang X, Li S, Malik I, Do MH, Ji L, Chou C, Shi W, Capistrano KJ, Zhang J, Hsu TW, Nixon BG, Xu K, Wang X, Ballabio A, Schmidt LS, et al. Reprogramming tumour-associated macrophages to outcompete cancer cells. Nature. PMID 37380769 DOI: 10.1038/s41586-023-06256-5  0.146
2020 Pastore N, Huynh T, Herz NJ, Calcagni' A, Klisch TJ, Brunetti L, Kim KH, De Giorgi M, Hurley A, Carissimo A, Mutarelli M, Aleksieva N, D'Orsi L, Lagor WR, Moore DD, ... ... Ballabio A, et al. TFEB regulates murine liver cell fate during development and regeneration. Nature Communications. 11: 2461. PMID 32424153 DOI: 10.1038/S41467-020-16300-X  0.146
2021 Verginelli F, Pisacane A, Gambardella G, D'Ambrosio A, Candiello E, Ferrio M, Panero M, Casorzo L, Benvenuti S, Cascardi E, Senetta R, Geuna E, Ballabio A, Montemurro F, Sapino A, et al. Cancer of unknown primary stem-like cells model multi-organ metastasis and unveil liability to MEK inhibition. Nature Communications. 12: 2498. PMID 33941777 DOI: 10.1038/s41467-021-22643-w  0.146
2023 Aufiero MA, Shlezinger N, Gjonbalaj M, Mills KAM, Ballabio A, Hohl TM. Dectin-1/CARD9-induction of the TFEB and TFE3 gene network is dispensable for phagocyte anti- activity in the lung. Biorxiv : the Preprint Server For Biology. PMID 37398416 DOI: 10.1101/2023.06.13.544785  0.145
2023 Piol D, Tosatto L, Zuccaro E, Anderson EN, Falconieri A, Polanco MJ, Marchioretti C, Lia F, White J, Bregolin E, Minervini G, Parodi S, Salvatella X, Arrigoni G, Ballabio A, et al. Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function. Science Advances. 9: eade1694. PMID 36608116 DOI: 10.1126/sciadv.ade1694  0.139
2008 Settembre C, Arteaga-Solis E, McKee MD, de Pablo R, Awqati QA, Ballabio A, Karsenty G. Proteoglycan desulfation regulates endochondral ossification Matrix Biology. 27: 37. DOI: 10.1016/J.Matbio.2008.09.330  0.136
1995 Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Mata J, Weissenbach J, Halley G, Schlessinger D, Chinault AC, Zoghbi HY, Nelson DL, Ballabio A. An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Human Molecular Genetics. 4: 1821-7. PMID 8595402 DOI: 10.1093/hmg/4.10.1821  0.133
2017 Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, et al. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Human Molecular Genetics. 26: 3028-3029. PMID 28854565 DOI: 10.1093/hmg/ddx131  0.13
2000 De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nature Genetics. 26: 275-6. PMID 11062464 DOI: 10.1038/81566  0.125
2014 Ballabio A. A.I.2 Neuromuscular Disorders. 24: 791. DOI: 10.1016/j.nmd.2014.06.006  0.12
1995 Casey B, Ballabio A. Connexin43 mutations in sporadic and familial defects of laterality. The New England Journal of Medicine. 333: 941; author reply 94. PMID 7666889 DOI: 10.1056/NEJM199510053331415  0.12
2017 Sbano L, Bonora M, Marchi S, Baldassari F, Medina DL, Ballabio A, Giorgi C, Pinton P. TFEB-mediated increase in peripheral lysosomes regulates store-operated calcium entry. Scientific Reports. 7: 40797. PMID 28084445 DOI: 10.1038/srep40797  0.118
2020 Naso F, Intartaglia D, Falanga D, Soldati C, Polishchuk E, Giamundo G, Tiberi P, Marrocco E, Scudieri P, Di Malta C, Trapani I, Nusco E, Salierno FG, Surace EM, Galietta LJ, ... ... Ballabio A, et al. Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance. The Embo Journal. e102468. PMID 32154600 DOI: 10.15252/Embj.2019102468  0.118
2013 Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Klisch TJ, Wollenberg AC, Di Bernardo D, Chan L, Irazoqui JE, Ballabio A. Erratum: TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop Nature Cell Biology. 15: 1016-1016. DOI: 10.1038/ncb2814  0.104
2021 Cui C, Chakraborty K, Tang XA, Schoenfelt KQ, Hoffman A, Blank A, McBeth B, Pulliam N, Reardon CA, Kulkarni SA, Vaisar T, Ballabio A, Krishnan Y, Becker L. A lysosome-targeted DNA nanodevice selectively targets macrophages to attenuate tumours. Nature Nanotechnology. PMID 34764452 DOI: 10.1038/s41565-021-00988-z  0.099
1977 Dionigi R, Dominioni L, Gnes F, Ballabio A. The effects of total parenteral nutrition on immunodepression due to malnutrition. Annals of Surgery. 185: 467-74. PMID 402893 DOI: 10.1097/00000658-197704000-00017  0.093
2021 Chao X, Wang S, Hlobik M, Ballabio A, Ni HM, Ding WX. Loss of Hepatic Transcription Factor EB Attenuates Alcohol-Associated Liver Carcinogenesis. The American Journal of Pathology. PMID 34717896 DOI: 10.1016/j.ajpath.2021.10.004  0.085
2022 Nakamura S, Shigeyama S, Minami S, Shima T, Akayama S, Matsuda T, Esposito A, Napolitano G, Kuma A, Namba-Hamano T, Nakamura J, Yamamoto K, Sasai M, Tokumura A, Miyamoto M, ... ... Ballabio A, et al. Author Correction: LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury. Nature Cell Biology. PMID 36195661 DOI: 10.1038/s41556-022-01017-4  0.08
2021 Goodwin JM, Walkup WG, Hooper K, Li T, Kishi-Itakura C, Ng A, Lehmberg T, Jha A, Kommineni S, Fletcher K, Garcia-Fortanet J, Fan Y, Tang Q, Wei M, Agrawal A, ... ... Ballabio A, et al. GABARAP sequesters the FLCN-FNIP tumor suppressor complex to couple autophagy with lysosomal biogenesis. Science Advances. 7: eabj2485. PMID 34597140 DOI: 10.1126/sciadv.abj2485  0.074
1987 Dominioni L, Dionigi R, Zanello M, Monico R, Cremaschi R, Dionigi R, Ballabio A, Massa M, Comelli M, Dal Ri P. Sepsis score and acute-phase protein response as predictors of outcome in septic surgical patients. Archives of Surgery (Chicago, Ill. : 1960). 122: 141-6. PMID 3492985 DOI: 10.1001/ARCHSURG.1987.01400140023001  0.073
2009 Bonaguri C, Melegari A, Dall'Aglio P, Ballabio A, Terenziani P, Russo A, Battistelli L, Aloe R, Camisa R, Campaniello G, Sartori E, Monica C. An italian multicenter study for application of a diagnostic algorithm in autoantibody testing. Annals of the New York Academy of Sciences. 1173: 124-9. PMID 19758140 DOI: 10.1111/j.1749-6632.2009.04635.x  0.072
2022 Ambrosio L, Chiara M, Lo Presti A, Poletti P, Alteri C, Cacchiarelli D, Bouchè V, Morgante M, Ballabio A, Perno CF, Merler S, Pesole G, Stefanelli P. SARS-CoV-2 variants: what have we learnt so far? Commentary. Annali Dell'Istituto Superiore Di Sanita. 58: 81-84. PMID 35722793 DOI: 10.4415/ANN_22_02_02  0.071
1991 Dominioni L, Dionigi R, Zanello M, Chiaranda M, Dionigi R, Acquarolo A, Ballabio A, Sguotti C. Effects of high-dose IgG on survival of surgical patients with sepsis scores of 20 or greater. Archives of Surgery (Chicago, Ill. : 1960). 126: 236-40. PMID 1992998 DOI: 10.1001/ARCHSURG.1991.01410260126018  0.068
2011 Bonaguri C, Melegari A, Ballabio A, Parmeggiani M, Russo A, Battistelli L, Aloe R, Trenti T, Lippi G. Italian multicentre study for application of a diagnostic algorithm in autoantibody testing for autoimmune rheumatic disease: conclusive results. Autoimmunity Reviews. 11: 1-5. PMID 21741498 DOI: 10.1016/j.autrev.2011.06.006  0.065
2021 Romeo G, Bobrow M, Ferguson-Smith M, Ballabio A. Victor McKusick and his role in the founding of the European School of Genetic Medicine. American Journal of Medical Genetics. Part A. 185: 3253-3258. PMID 34498367 DOI: 10.1002/ajmg.a.62481  0.062
1985 Dionigi R, Dominioni L, Jemos V, Cremaschi R, Bobbio-Pallavicini F, Ballabio A. Sepsis score and complement factor B for monitoring severely septic surgical patients and for predicting their survival. European Surgical Research. Europaische Chirurgische Forschung. Recherches Chirurgicales Europeennes. 17: 269-80. PMID 3850809 DOI: 10.1159/000128478  0.057
2017 Di Malta C, Ballabio A. TFEB-mTORC1 feedback loop in metabolism and cancer. Cell Stress. 1: 7-10. PMID 31225432 DOI: 10.15698/cst2017.10.103  0.056
2020 Barzaghi A, Firoozabadi S, Salvalaglio M, Bergamaschini R, Ballabio A, Beyer A, Albani M, Valente J, Voigt A, Paul DJ, Miglio L, Montalenti F, Volz K, Isella G. Self-Assembly of Nanovoids in Si Microcrystals Epitaxially Grown on Deeply Patterned Substrates. Crystal Growth & Design. 20: 2914-2920. PMID 33828439 DOI: 10.1021/acs.cgd.9b01312  0.055
2020 Montesinos-Ballester M, Lafforgue C, Frigerio J, Ballabio A, Vakarin V, Liu Q, Ramirez JM, Roux XL, Bouville D, Barzaghi A, Alonso-Ramos C, Vivien L, Isella G, Marris-Morini D. On-Chip Mid-Infrared Supercontinuum Generation from 3 to 13 μm Wavelength. Acs Photonics. 7: 3423-3429. PMID 33365361 DOI: 10.1021/acsphotonics.0c01232  0.054
2019 Ramirez JM, Liu Q, Vakarin V, Le Roux X, Frigerio J, Ballabio A, Alonso-Ramos C, Simola ET, Vivien L, Isella G, Marris-Morini D. Broadband integrated racetrack ring resonators for long-wave infrared photonics. Optics Letters. 44: 407-410. PMID 30644912 DOI: 10.1364/OL.44.000407  0.054
2020 Montesinos-Ballester M, Vakarin V, Liu Q, Le Roux X, Frigerio J, Ballabio A, Barzaghi A, Alonso-Ramos C, Vivien L, Isella G, Marris-Morini D. Ge-rich graded SiGe waveguides and interferometers from 5 to 11 µm wavelength range. Optics Express. 28: 12771-12779. PMID 32403767 DOI: 10.1364/OE.391464  0.053
2020 Pedrini J, Biagioni P, Ballabio A, Barzaghi A, Bonzi M, Bonera E, Isella G, Pezzoli F. Broadband control of the optical properties of semiconductors through site-controlled self-assembly of microcrystals. Optics Express. 28: 24981-24990. PMID 32907029 DOI: 10.1364/OE.398098  0.051
2020 Gallacher K, Millar RW, Paul DJ, Frigerio J, Ballabio A, Isella G, Rusconi F, Biagioni P, Giliberti V, Sorgi A, Baldassarre L, Ortolani M. Characterization of integrated waveguides by atomic-force-microscopy-assisted mid-infrared imaging and spectroscopy. Optics Express. 28: 22186-22199. PMID 32752485 DOI: 10.1364/OE.393748  0.047
2018 Soria L, Allegri G, Melck D, Pastore N, Annunziata P, Paris D, Polishchuk E, Nusco E, Thöny B, Motta A, Häberle J, Ballabio A, Brunetti-Pierri N. Hepatic autophagy potentiates ureagenesis and its enhancement protects against acute and chronic hyperammonemia Journal of Hepatology. 68: S413. DOI: 10.1016/S0168-8278(18)31064-X  0.046
2024 Valentini M, Sagi O, Baghumyan L, de Gijsel T, Jung J, Calcaterra S, Ballabio A, Aguilera Servin J, Aggarwal K, Janik M, Adletzberger T, Seoane Souto R, Leijnse M, Danon J, Schrade C, et al. Parity-conserving Cooper-pair transport and ideal superconducting diode in planar germanium. Nature Communications. 15: 169. PMID 38167818 DOI: 10.1038/s41467-023-44114-0  0.046
2016 Skibitzki O, Capellini G, Yamamoto Y, Zaumseil P, Schubert MA, Schroeder T, Ballabio A, Bergamaschini R, Salvalaglio M, Miglio L, Montalenti F. RPCVD growth of isolated Ge crystals and suspended layers on micrometric Si pillars. Acs Applied Materials & Interfaces. PMID 27603117 DOI: 10.1021/Acsami.6B07694  0.044
2018 Liu Q, Ramirez JM, Vakarin V, Le Roux X, Frigerio J, Ballabio A, Simola ET, Alonso-Ramos C, Benedikovic D, Bouville D, Vivien L, Isella G, Marris-Morini D. On-chip Bragg grating waveguides and Fabry-Perot resonators for long-wave infrared operation up to 8.4 µm. Optics Express. 26: 34366-34372. PMID 30650859 DOI: 10.1364/OE.26.034366  0.043
2018 Liu Q, Ramirez JM, Vakarin V, Le Roux X, Alonso-Ramos C, Frigerio J, Ballabio A, Talamas Simola E, Bouville D, Vivien L, Isella G, Marris-Morini D. Integrated broadband dual-polarization Ge-rich SiGe mid-infrared Fourier-transform spectrometer. Optics Letters. 43: 5021-5024. PMID 30320809  0.042
2017 Zurleni T, Cassiano A, Gjoni E, Ballabio A, Serio G, Marzoli L, Zurleni F. Correction to: Surgical and oncological outcomes after complete mesocolic excision in right-sided colon cancer compared with conventional surgery: a retrospective, single-institution study. International Journal of Colorectal Disease. PMID 29214343 DOI: 10.1007/s00384-017-2936-z  0.041
2017 Serna S, Vakarin V, Ramirez JM, Frigerio J, Ballabio A, Le Roux X, Vivien L, Isella G, Cassan E, Dubreuil N, Marris-Morini D. Nonlinear Properties of Ge-rich Si1-xGex Materials with Different Ge Concentrations. Scientific Reports. 7: 14692. PMID 29116201 DOI: 10.1038/s41598-017-15266-z  0.039
2022 Nguyen THN, Koompai N, Turpaud V, Montesinos-Ballester M, Peltier J, Frigerio J, Ballabio A, Giani R, Coudevylle JR, Villebasse C, Bouville D, Alonso-Ramos C, Vivien L, Isella G, Marris-Morini D. 1 GHz electro-optical silicon-germanium modulator in the 5-9 µm wavelength range. Optics Express. 30: 47093-47102. PMID 36558646 DOI: 10.1364/OE.476164  0.037
2020 Toliopoulos D, Fedorov A, Bietti S, Bollani M, Bonera E, Ballabio A, Isella G, Bouabdellaoui M, Abbarchi M, Tsukamoto S, Sanguinetti S. Solid-State Dewetting Dynamics of Amorphous Ge Thin Films on Silicon Dioxide Substrates. Nanomaterials (Basel, Switzerland). 10. PMID 33348747 DOI: 10.3390/nano10122542  0.035
2022 Ballabio A, Zoghbi H. C. Thomas Caskey (1938-2022). Science (New York, N.Y.). 375: 824. PMID 35201877 DOI: 10.1126/science.abo3949  0.034
2021 Jirovec D, Hofmann A, Ballabio A, Mutter PM, Tavani G, Botifoll M, Crippa A, Kukucka J, Sagi O, Martins F, Saez-Mollejo J, Prieto I, Borovkov M, Arbiol J, Chrastina D, et al. A singlet-triplet hole spin qubit in planar Ge. Nature Materials. PMID 34083775 DOI: 10.1038/s41563-021-01022-2  0.031
1970 Szilágyi L, Ballabio A, Pegoraro M. Discussion on the method for the measurement of the flexural modulus of coupled materials and reasons of the shifts of theQ −1 maxima caused by coupling Kolloid-Zeitschrift & Zeitschrift FüR Polymere. 238: 415-422. DOI: 10.1007/BF02085564  0.03
2019 Montesinos-Ballester M, Liu Q, Vakarin V, Ramirez JM, Alonso-Ramos C, Roux XL, Frigerio J, Ballabio A, Talamas E, Vivien L, Isella G, Marris-Morini D. On-chip Fourier-transform spectrometer based on spatial heterodyning tuned by thermo-optic effect. Scientific Reports. 9: 14633. PMID 31601832 DOI: 10.1038/s41598-019-50947-x  0.03
2015 Sanguinetti S, Bietti S, Scarpellini D, Ballabio A, Miglio L, Isella G, Esposito L, Frigerio J, Fedorov A, Gurioli M, Biccari F, Abbarchi M, Vinattieri A. GaAs nanostructures on Si platform 2015 Opto-Electronics and Communications Conference, Oecc 2015. DOI: 10.1109/OECC.2015.7340229  0.027
2017 Ramirez JM, Vakarin V, Gilles C, Frigerio J, Ballabio A, Chaisakul P, Roux XL, Alonso-Ramos C, Maisons G, Vivien L, Carras M, Isella G, Marris-Morini D. Low-loss Ge-rich Si0.2Ge0.8 waveguides for mid-infrared photonics. Optics Letters. 42: 105-108. PMID 28059186 DOI: 10.1364/OL.42.000105  0.027
2022 Jirovec D, Mutter PM, Hofmann A, Crippa A, Rychetsky M, Craig DL, Kukucka J, Martins F, Ballabio A, Ares N, Chrastina D, Isella G, Burkard G, Katsaros G. Dynamics of Hole Singlet-Triplet Qubits with Large g-Factor Differences. Physical Review Letters. 128: 126803. PMID 35394319 DOI: 10.1103/PhysRevLett.128.126803  0.026
2015 Vakarin V, Chaisakul P, Frigerio J, Ballabio A, Le Roux X, Coudevylle JR, Bouville D, Perez-Galacho D, Vivien L, Isella G, Marris-Morini D. Sharp bends and Mach-Zehnder interferometer based on Ge-rich-SiGe waveguides on SiGe graded buffer. Optics Express. 23: 30821-6. PMID 26698715  0.026
2015 Bietti S, Esposito L, Fedorov A, Ballabio A, Martinelli A, Sanguinetti S. Characterization and Effect of Thermal Annealing on InAs Quantum Dots Grown by Droplet Epitaxy on GaAs(111)A Substrates. Nanoscale Research Letters. 10: 930. PMID 26058506 DOI: 10.1186/s11671-015-0930-3  0.026
2017 Vakarin V, Ramírez JM, Frigerio J, Ballabio A, Le Roux X, Liu Q, Bouville D, Vivien L, Isella G, Marris-Morini D. Ultra-wideband Ge-rich silicon germanium integrated Mach-Zehnder interferometer for mid-infrared spectroscopy. Optics Letters. 42: 3482-3485. PMID 28957068  0.025
2012 Zurleni T, Gjoni E, Cassiano A, Ballabio A, Casieri R, Salatino G, Bartolucci C, Tori A, Marzoli L, Zurleni F. Comparison of the 6th and 7th editions of the UICC/AJCC TNM staging system in gastric cancer patients in a single institution European Journal of Surgical Oncology (Ejso). 38: 988-989. DOI: 10.1016/j.ejso.2012.07.046  0.025
2019 Ballabio A, Bietti S, Scaccabarozzi A, Esposito L, Vichi S, Fedorov A, Vinattieri A, Mannucci C, Biccari F, Nemcsis A, Toth L, Miglio L, Gurioli M, Isella G, Sanguinetti S. GaAs epilayers grown on patterned (001) silicon substrates via suspended Ge layers. Scientific Reports. 9: 17529. PMID 31772248 DOI: 10.1038/s41598-019-53949-x  0.024
2012 Gjoni E, Zurleni T, Cassiano A, Ballabio A, Olmetti S, Ceriani P, Are F, Carsenzuola V, Marzoli L, Zurleni F. A 12-year experience in the treatment of gastric cancer. Long-term follow-up and survival analyses at 5 and 10 years European Journal of Surgical Oncology (Ejso). 38: 986. DOI: 10.1016/J.EJSO.2012.07.040  0.024
2018 Frigerio J, Ballabio A, Ortolani M, Virgilio M. Modeling of second harmonic generation in hole-doped silicon-germanium quantum wells for mid-infrared sensing. Optics Express. 26: 31861-31872. PMID 30650765 DOI: 10.1364/OE.26.031861  0.023
2018 Bietti S, Basso Basset F, Scarpellini D, Fedorov A, Ballabio A, Esposito L, Elborg M, Kuroda T, Nemcsics A, Toth L, Manzoni C, Vozzi C, Sanguinetti S. Ga metal nanoparticle-GaAs quantum molecule complexes for Terahertz generation. Nanotechnology. PMID 29911655 DOI: 10.1088/1361-6528/aacd20  0.021
2012 Cassiano A, Zurleni T, Gjoni E, Ballabio A, Casieri R, Armiraglio L, Zurleni F. Improving surgical technique in colorectal surgery: Complete mesocolic excision European Journal of Surgical Oncology (Ejso). 38: 979. DOI: 10.1016/J.EJSO.2012.07.019  0.013
2015 Olmetti S, Gjoni E, Zurleni T, Ballabio A, Zurleni F. Impact of pancreaticojejunostomy's surgical technique on post-operative pancreatic fistula: A single centre experience European Journal of Surgical Oncology (Ejso). 41: S8. DOI: 10.1016/J.EJSO.2014.10.023  0.012
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