Andrea Ballabio - Publications

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98 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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  0.36
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  0.36
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  0.36
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  0.68
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  0.68
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  0.36
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  0.68
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  0.36
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  0.36
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  0.68
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  0.36
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  0.36
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  0.68
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  0.36
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  0.68
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  0.36
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  0.48
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  0.48
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  0.36
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  0.48
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  0.48
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  0.96
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  0.48
2015 Medina DL, Ballabio A. Lysosomal calcium regulates autophagy. Autophagy. 11: 970-1. PMID 26000950 DOI: 10.1080/15548627.2015.1047130  0.36
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  0.48
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  0.48
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  0.48
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  0.48
2014 Settembre C, Ballabio A. Cell metabolism: autophagy transcribed. Nature. 516: 40-1. PMID 25383529 DOI: 10.1038/nature13939  0.36
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  0.48
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  0.36
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  0.48
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  0.48
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  0.36
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  0.48
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  0.48
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  0.48
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  0.36
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  0.48
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  0.48
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  0.68
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.36
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  0.48
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  0.48
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  0.48
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  0.96
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  0.48
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  0.68
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  0.48
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  0.36
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.36
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  0.68
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  0.36
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  0.96
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  0.48
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  0.96
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  0.48
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  0.48
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  0.48
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  0.96
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  0.48
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  0.48
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  0.48
2008 Settembre C, Fraldi A, Rubinsztein DC, Ballabio A. Lysosomal storage diseases as disorders of autophagy. Autophagy. 4: 113-4. PMID 18000397  0.68
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  0.68
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  0.48
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  0.36
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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  0.48
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