| Year |
Citation |
Score |
| 2020 |
Luu AR, Wong H, Agrawal V, Wise N, Handyside B, Lo MJ, Pacheco G, Felix JB, Giaramita A, d'Azzo A, Vincelette J, Bullens S, Bunting S, Christianson TM, Hague C, et al. Lysosome-targeted β-galactosidase negatively regulates neuraminidase 1 (NEU1) and promotes NEU1 deficiency in GM1 gangliosidosis. The Journal of Biological Chemistry. PMID 32727849 DOI: 10.1074/Jbc.Ra119.010794 |
0.378 |
|
| 2020 |
Han MJ, Annunziata I, Weesner J, Campos Y, Salie M, O'Reilly C, d'Azzo A. Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations. Stem Cell Research. 46: 101836. PMID 32485644 DOI: 10.1016/J.Scr.2020.101836 |
0.326 |
|
| 2019 |
Lawrence R, Van Vleet JL, Mangini L, Harris A, Martin N, Clark W, Chandriani S, LeBowitz JH, Giugliani R, d'Azzo A, Yogalingam G, Crawford BE. Characterization of glycan substrates accumulating in GM1 Gangliosidosis. Molecular Genetics and Metabolism Reports. 21: 100524. PMID 31720227 DOI: 10.1016/J.Ymgmr.2019.100524 |
0.369 |
|
| 2019 |
Chen JC, Luu AR, Wise N, Angelis R, Agrawal V, Mangini L, Vincelette J, Handyside B, Sterling HJ, Lo MJ, Wong H, Galicia N, Pacheco G, Van Vleet J, Giaramita A, et al. Intracerebroventricular enzyme replacement therapy with Beta-Galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice. The Journal of Biological Chemistry. PMID 31481471 DOI: 10.1074/Jbc.Ra119.009811 |
0.364 |
|
| 2018 |
Romancino DP, Buffa V, Caruso S, Ferrara I, Raccosta S, Notaro A, Campos Y, Noto R, Martorana V, Cupane A, Giallongo A, d'Azzo A, Manno M, Bongiovanni A. Palmitoylation is a post-translational modification of Alix regulating the membrane organization of exosome-like small extracellular vesicles. Biochimica Et Biophysica Acta. General Subjects. 1862: 2879-2887. PMID 30251702 DOI: 10.1016/J.Bbagen.2018.09.004 |
0.314 |
|
| 2017 |
Annunziata I, d'Azzo A. Galactosialidosis: historic aspects and overview of investigated and emerging treatment options. Expert Opinion On Orphan Drugs. 5: 131-141. PMID 28603679 DOI: 10.1080/21678707.2016.1266933 |
0.302 |
|
| 2016 |
Ayala J, Acosta W, Condori J, Annunziata I, Katta V, Flory A, Martin R, Radin J, Cramer CL, d'Azzo A, Radin DN. Uptake, lysosomal activation, and disease correction in GM1 Gangliosidosis cells by plant-made β-galactosidase: Lectin fusions Molecular Genetics and Metabolism. 117. DOI: 10.1016/J.Ymgme.2015.12.186 |
0.316 |
|
| 2015 |
d'Azzo A, Machado E, Annunziata I. Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis. Expert Opinion On Orphan Drugs. 3: 491-504. PMID 26949572 DOI: 10.1517/21678707.2015.1025746 |
0.4 |
|
| 2014 |
Bonardi D, Ravasio V, Borsani G, d'Azzo A, Bresciani R, Monti E, Giacopuzzi E. In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. Plos One. 9: e104229. PMID 25153125 DOI: 10.1371/Journal.Pone.0104229 |
0.359 |
|
| 2013 |
Annunziata I, Patterson A, Helton D, Hu H, Moshiach S, Gomero E, Nixon R, D'Azzo A. Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis Nature Communications. 4. PMID 24225533 DOI: 10.1038/Ncomms3734 |
0.65 |
|
| 2013 |
Bonten EJ, Yogalingam G, Hu H, Gomero E, van de Vlekkert D, d'Azzo A. Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis. Biochimica Et Biophysica Acta. 1832: 1784-92. PMID 23770387 DOI: 10.1016/J.Bbadis.2013.06.002 |
0.399 |
|
| 2012 |
Lehman A, Mattman A, Sin D, Pare P, Zong Z, d'Azzo A, Campos Y, Sirrs S, Hinek A. Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. Molecular Genetics and Metabolism. 106: 99-103. PMID 22386972 DOI: 10.1016/J.Ymgme.2012.02.004 |
0.343 |
|
| 2012 |
Bongiovanni A, Romancino DP, Campos Y, Paterniti G, Qiu X, Moshiach S, Di Felice V, Vergani N, Ustek D, d'Azzo A. Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle. The Journal of Biological Chemistry. 287: 12159-71. PMID 22334701 DOI: 10.1074/Jbc.M111.297036 |
0.301 |
|
| 2012 |
Hu H, Gomero E, Bonten E, Gray JT, Allay J, Wu Y, Wu J, Calabrese C, Nienhuis A, d'Azzo A. Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis. Molecular Therapy : the Journal of the American Society of Gene Therapy. 20: 267-74. PMID 22008912 DOI: 10.1038/Mt.2011.227 |
0.337 |
|
| 2011 |
Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, et al. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochimica Et Biophysica Acta. 1812: 782-90. PMID 21497194 DOI: 10.1016/J.Bbadis.2011.03.018 |
0.334 |
|
| 2010 |
d'Azzo A, Bonten E. Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. Biochemical Society Transactions. 38: 1453-7. PMID 21118106 DOI: 10.1042/Bst0381453 |
0.403 |
|
| 2010 |
Baek RC, Broekman ML, Leroy SG, Tierney LA, Sandberg MA, d'Azzo A, Seyfried TN, Sena-Esteves M. AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival. Plos One. 5: e13468. PMID 20976108 DOI: 10.1371/Journal.Pone.0013468 |
0.325 |
|
| 2010 |
Monti E, Bonten E, D'Azzo A, Bresciani R, Venerando B, Borsani G, Schauer R, Tettamanti G. Sialidases in vertebrates: a family of enzymes tailored for several cell functions. Advances in Carbohydrate Chemistry and Biochemistry. 64: 403-79. PMID 20837202 DOI: 10.1016/S0065-2318(10)64007-3 |
0.319 |
|
| 2009 |
Wang D, Zaitsev S, Taylor G, d'Azzo A, Bonten E. Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1. Biochimica Et Biophysica Acta. 1790: 275-82. PMID 19714866 DOI: 10.1016/J.Bbagen.2009.01.006 |
0.334 |
|
| 2009 |
Bonten EJ, Campos Y, Zaitsev V, Nourse A, Waddell B, Lewis W, Taylor G, d'Azzo A. Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. The Journal of Biological Chemistry. 284: 28430-41. PMID 19666471 DOI: 10.1074/Jbc.M109.031419 |
0.329 |
|
| 2009 |
Caciotti A, Donati MA, d'Azzo A, Salvioli R, Guerrini R, Zammarchi E, Morrone A. The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 13: 160-4. PMID 18571950 DOI: 10.1016/J.Ejpn.2008.03.004 |
0.362 |
|
| 2008 |
Yogalingam G, Bonten EJ, van de Vlekkert D, Hu H, Moshiach S, Connell SA, d'Azzo A. Neuraminidase 1 is a negative regulator of lysosomal exocytosis. Developmental Cell. 15: 74-86. PMID 18606142 DOI: 10.1016/J.Devcel.2008.05.005 |
0.358 |
|
| 2007 |
Hermo L, Korah N, Gregory M, Liu LY, Cyr DG, D'Azzo A, Smith CE. Structural alterations of epididymal epithelial cells in cathepsin A-deficient mice affect the blood-epididymal barrier and lead to altered sperm motility. Journal of Andrology. 28: 784-97. PMID 17522420 DOI: 10.2164/Jandrol.107.002980 |
0.321 |
|
| 2007 |
Caciotti A, Donati MA, Procopio E, Filocamo M, Kleijer W, Wuyts W, Blaumeiser B, d'Azzo A, Simi L, Orlando C, McKenzie F, Fiumara A, Zammarchi E, Morrone A. GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. Human Mutation. 28: 204. PMID 17221873 DOI: 10.1002/Humu.9475 |
0.341 |
|
| 2007 |
Caciotti A, Bardelli T, D'azzo A, Zammarchi E, Morrone A. GLB1 new polymorphism interferes with the residual enzymatic activity of mutated β-galactosidase Acta Paediatrica. 91: 158-158. DOI: 10.1111/J.1651-2227.2002.Tb03198.X |
0.33 |
|
| 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 |
0.36 |
|
| 2005 |
Caciotti A, Donati MA, Bardelli T, d'Azzo A, Massai G, Luciani L, Zammarchi E, Morrone A. Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. The American Journal of Pathology. 167: 1689-98. PMID 16314480 DOI: 10.1016/S0002-9440(10)61251-5 |
0.399 |
|
| 2005 |
Georgiou T, Stylianidou G, Anastasiadou V, Caciotti A, Campos Y, Zammarchi E, Morrone A, D'azzo A, Drousiotou A. The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village. Genetic Testing. 9: 126-32. PMID 15943552 DOI: 10.1089/Gte.2005.9.126 |
0.353 |
|
| 2005 |
Sano R, Tessitore A, Ingrassia A, d'Azzo A. Chemokine-induced recruitment of genetically modified bone marrow cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology. Blood. 106: 2259-68. PMID 15941905 DOI: 10.1182/Blood-2005-03-1189 |
0.375 |
|
| 2005 |
d'Azzo A, Bongiovanni A, Nastasi T. E3 ubiquitin ligases as regulators of membrane protein trafficking and degradation. Traffic (Copenhagen, Denmark). 6: 429-41. PMID 15882441 DOI: 10.1111/J.1600-0854.2005.00294.X |
0.326 |
|
| 2005 |
Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Human Mutation. 25: 285-92. PMID 15714521 DOI: 10.1002/Humu.20147 |
0.329 |
|
| 2005 |
Kasperzyk JL, d'Azzo A, Platt FM, Alroy J, Seyfried TN. Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice. Journal of Lipid Research. 46: 744-51. PMID 15687347 DOI: 10.1194/Jlr.M400411-Jlr200 |
0.306 |
|
| 2005 |
Cardone M, Polito V, D'Azzo A, Muenzer J, Auricchio A, Ballabio A, Cosma MP. 250. Correction of Hunter Syndrome in the Ids-Knock-Out Mouse Model by r-AVV Mediated Gene Therapy Molecular Therapy. 11. DOI: 10.1016/J.Ymthe.2005.06.253 |
0.366 |
|
| 2004 |
Hauser EC, Kasperzyk JL, d'Azzo A, Seyfried TN. Inheritance of lysosomal acid beta-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice. Biochemical Genetics. 42: 241-57. PMID 15487588 DOI: 10.1023/B:Bigi.0000034429.55418.71 |
0.309 |
|
| 2004 |
Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, D'Azzo A. Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis Human Mutation. 24: 352. PMID 15365997 DOI: 10.1002/Humu.9279 |
0.323 |
|
| 2004 |
Tessitore A, del P Martin M, Sano R, Ma Y, Mann L, Ingrassia A, Laywell ED, Steindler DA, Hendershot LM, d'Azzo A. GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Molecular Cell. 15: 753-66. PMID 15350219 DOI: 10.1016/J.Molcel.2004.08.029 |
0.329 |
|
| 2004 |
Nastasi T, Bongiovanni A, Campos Y, Mann L, Toy JN, Bostrom J, Rottier R, Hahn C, Conaway JW, Harris AJ, D'Azzo A. Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin degradation during myogenesis. Developmental Cell. 6: 269-82. PMID 14960280 DOI: 10.1016/S1534-5807(04)00020-6 |
0.375 |
|
| 2004 |
Sano R, Tessitore A, Ingrassia A, d'Azzo A. 698. Gene Therapy of Murine GM1 Gangliosidosis by Genetically Modified BoneMarrow Hematopoietic Progenitor Cells|[ast]| Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.650 |
0.32 |
|
| 2003 |
Korah N, Smith CE, D'Azzo A, Mui J, Hermo L. Characterization of cell- and region-specific abnormalities in the epididymis of cathepsin A deficient mice. Molecular Reproduction and Development. 66: 358-73. PMID 14579412 DOI: 10.1002/Mrd.10359 |
0.352 |
|
| 2003 |
Caciotti A, Bardelli T, Cunningham J, D'Azzo A, Zammarchi E, Morrone A. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Human Genetics. 113: 44-50. PMID 12644936 DOI: 10.1007/S00439-003-0930-8 |
0.336 |
|
| 2003 |
Korah N, Smith CE, D'Azzo A, El-Alfy M, Hermo L. Increase in macrophages in the testis of cathepsin a deficient mice suggests an important role for these cells in the interstitial space of this tissue. Molecular Reproduction and Development. 64: 302-20. PMID 12548663 DOI: 10.1002/Mrd.10209 |
0.327 |
|
| 2003 |
Cuervo AM, Mann L, Bonten EJ, d'Azzo A, Dice JF. Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor. The Embo Journal. 22: 47-59. PMID 12505983 DOI: 10.1093/Emboj/Cdg002 |
0.322 |
|
| 2002 |
de Geest N, Bonten E, Mann L, de Sousa-Hitzler J, Hahn C, d'Azzo A. Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. Human Molecular Genetics. 11: 1455-64. PMID 12023988 DOI: 10.1093/Hmg/11.12.1455 |
0.362 |
|
| 2002 |
Leimig T, Mann L, Martin Mdel P, Bonten E, Persons D, Knowles J, Allay JA, Cunningham J, Nienhuis AW, Smeyne R, d'Azzo A. Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells. Blood. 99: 3169-78. PMID 11964280 DOI: 10.1182/Blood.V99.9.3169 |
0.359 |
|
| 2001 |
Neufeld EF, d'Azzo A. 14. Biosynthesis of normal and mutant β-hexosaminidases Advances in Genetics. 44: 165-171. PMID 11596981 DOI: 10.1016/S0065-2660(01)44078-8 |
0.388 |
|
| 2000 |
Bonten EJ, D'Azzo A. Lysosomal neuraminidase. Catalytic activation in insect cells is controlled by the protective protein/cathepsin A Journal of Biological Chemistry. 275: 37657-37663. PMID 10982818 DOI: 10.1074/Jbc.M007380200 |
0.377 |
|
| 2000 |
Van Der Spoel A, Bonten E, D'Azzo A. Processing of lysosomal β-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme Journal of Biological Chemistry. 275: 10035-10040. PMID 10744681 DOI: 10.1074/Jbc.275.14.10035 |
0.389 |
|
| 2000 |
Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E. β-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement Human Mutation. 15: 354-366. PMID 10737981 DOI: 10.1002/(Sici)1098-1004(200004)15:4<354::Aid-Humu8>3.0.Co;2-L |
0.378 |
|
| 1999 |
Silva CMD, Severini MH, Sopelsa A, Coelho JC, Zaha A, D'Azzo A, Giugliani R. Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis Human Mutation. 13: 401-409. PMID 10338095 DOI: 10.1002/(Sici)1098-1004(1999)13:5<401::Aid-Humu9>3.0.Co;2-N |
0.364 |
|
| 1998 |
Rottier RJ, Hahn CN, Mann LW, del Pilar Martin M, Smeyne RJ, Suzuki K, d'Azzo A. Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCA. Human Molecular Genetics. 7: 1787-94. PMID 9736781 DOI: 10.1093/Hmg/7.11.1787 |
0.392 |
|
| 1998 |
Van Der Spoel A, Bonten E, D'Azzo A. Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A Embo Journal. 17: 1588-1597. PMID 9501080 DOI: 10.1093/Emboj/17.6.1588 |
0.416 |
|
| 1998 |
Rudenko G, Bonten E, Hol WGJ, D'Azzo A. The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis Proceedings of the National Academy of Sciences of the United States of America. 95: 621-625. PMID 9435242 DOI: 10.1073/Pnas.95.2.621 |
0.406 |
|
| 1998 |
Rottier RJ, Bonten E, D'Azzo A. A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse Human Molecular Genetics. 7: 313-321. PMID 9425240 DOI: 10.1093/Hmg/7.2.313 |
0.415 |
|
| 1997 |
Rottier RJ, D'azzo A. Identification of the Promoters for the Human and Murine Protective Protein/Cathepsin A Genes Dna and Cell Biology. 16: 599-610. PMID 9174165 DOI: 10.1089/Dna.1997.16.599 |
0.348 |
|
| 1997 |
Hahn CN, del Pilar Martin M, Schröder M, Vanier MT, Hara Y, Suzuki K, Suzuki K, d'Azzo A. Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase. Human Molecular Genetics. 6: 205-11. PMID 9063740 DOI: 10.1093/Hmg/6.2.205 |
0.394 |
|
| 1996 |
Bonten E, Van Der Spoel A, Fornerod M, Grosveld G, D'Azzo A. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis Genes and Development. 10: 3156-3169. PMID 8985184 DOI: 10.1101/Gad.10.24.3156 |
0.395 |
|
| 1996 |
Zhou XY, Van Der Spoel A, Rottier R, Hale G, Willemsen R, Berry GT, Strisciuglio P, Andria G, D'Azzo A. Molecular and biochemical analysis of protective proten/cathepsin A mutations: Correlation with clinical severity in galactosialidosis Human Molecular Genetics. 5: 1977-1987. PMID 8968752 DOI: 10.1093/Hmg/5.12.1977 |
0.359 |
|
| 1996 |
Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, D'Azzo A. Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient American Journal of Medical Genetics. 64: 453-458. PMID 8862621 DOI: 10.1002/(Sici)1096-8628(19960823)64:3<453::Aid-Ajmg2>3.0.Co;2-Q |
0.365 |
|
| 1996 |
Kleijer WJ, Geilen GC, Janse HC, Van Diggelen OP, Zhou XY, Galjart NJ, Galjaard H, D'Azzo A. Cathepsin A deficiency in galactosialidosis: Studies of patients and carriers in 16 families Pediatric Research. 39: 1067-1071. PMID 8725271 DOI: 10.1203/00006450-199606000-00022 |
0.372 |
|
| 1996 |
Rudenko G, Bonten E, D'Azzo A, Hol WGJ. Structure determination of the human protective protein: Twofold averaging reveals the three-dimensional structure of a domain which was entirely absent in the initial model Acta Crystallographica Section D: Biological Crystallography. 52: 923-936. DOI: 10.1107/S0907444996004702 |
0.307 |
|
| 1995 |
Rudenko G, Bonten E, d'Azzo A, GJ Hol W. Three-dimensional structure of the human protective protein: structure of the precursor form suggests a complex activation mechanism Structure. 3: 1249-1259. PMID 8591035 DOI: 10.1016/S0969-2126(01)00260-X |
0.332 |
|
| 1995 |
Bonten EJ, Galjart NJ, Willemsen R, Usmany M, Vlak JM, D'Azzo A. Lysosomal protective protein/cathepsin A: Role of the "linker" domain in catalytic activation Journal of Biological Chemistry. 270: 26441-26445. PMID 7592859 DOI: 10.1074/Jbc.270.44.26441 |
0.348 |
|
| 1992 |
Morreau H, Galjart NJ, Willemsen R, Gillemans N, Zhou XY, D'Azzo A. Human lysosomal protective protein: Glycosylation, intracellular transport, and association with β-galactosidase in the endoplasmic reticulum Journal of Biological Chemistry. 267: 17949-17956. PMID 1387645 |
0.312 |
|
| 1991 |
Morreau H, Bonten E, Xiao Yan Zhou, D'Azzo A. Organization of the gene encoding human lysosomal β-galactosidase Dna and Cell Biology. 10: 495-504. PMID 1909871 DOI: 10.1089/Dna.1991.10.495 |
0.357 |
|
| 1991 |
Zhou XY, Galjaard NJ, Willemsen R, Gillemans N, Galjaard H, D'Azzo A. A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable Embo Journal. 10: 4041-4048. PMID 1756715 |
0.314 |
|
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