These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
26. Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. Zhang S; Bagshaw R; Hilson W; Oho Y; Hinek A; Clarke JT; Callahan JW Biochem J; 2000 Jun; 348 Pt 3(Pt 3):621-32. PubMed ID: 10839995 [TBL] [Abstract][Full Text] [Related]
27. Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. Suzuki Y; Ichinomiya S; Kurosawa M; Ohkubo M; Watanabe H; Iwasaki H; Matsuda J; Noguchi Y; Takimoto K; Itoh M; Tabe M; Iida M; Kubo T; Ogawa S; Nanba E; Higaki K; Ohno K; Brady RO Ann Neurol; 2007 Dec; 62(6):671-5. PubMed ID: 17994547 [TBL] [Abstract][Full Text] [Related]
28. Correction of acid beta-galactosidase deficiency in GM1 gangliosidosis human fibroblasts by retrovirus vector-mediated gene transfer: higher efficiency of release and cross-correction by the murine enzyme. Sena-Esteves M; Camp SM; Alroy J; Breakefield XO; Kaye EM Hum Gene Ther; 2000 Mar; 11(5):715-27. PubMed ID: 10757351 [TBL] [Abstract][Full Text] [Related]
29. Mechanisms of distribution of mouse beta-galactosidase in the adult GM1-gangliosidosis brain. Broekman ML; Tierney LA; Benn C; Chawla P; Cha JH; Sena-Esteves M Gene Ther; 2009 Feb; 16(2):303-8. PubMed ID: 18818671 [TBL] [Abstract][Full Text] [Related]
30. Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. Caciotti A; Donati MA; Bardelli T; d'Azzo A; Massai G; Luciani L; Zammarchi E; Morrone A Am J Pathol; 2005 Dec; 167(6):1689-98. PubMed ID: 16314480 [TBL] [Abstract][Full Text] [Related]
31. GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Tessitore A; del P Martin M; Sano R; Ma Y; Mann L; Ingrassia A; Laywell ED; Steindler DA; Hendershot LM; d'Azzo A Mol Cell; 2004 Sep; 15(5):753-66. PubMed ID: 15350219 [TBL] [Abstract][Full Text] [Related]
32. Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. Kwak JE; Son MY; Son YS; Son MJ; Cho YS Biochem Biophys Res Commun; 2015 Feb; 457(4):554-60. PubMed ID: 25600812 [TBL] [Abstract][Full Text] [Related]
33. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 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 Hum Mutat; 2005 Mar; 25(3):285-92. PubMed ID: 15714521 [TBL] [Abstract][Full Text] [Related]
34. Inheritance of lysosomal acid beta-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice. Hauser EC; Kasperzyk JL; d'Azzo A; Seyfried TN Biochem Genet; 2004 Aug; 42(7-8):241-57. PubMed ID: 15487588 [TBL] [Abstract][Full Text] [Related]
35. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Brunetti-Pierri N; Scaglia F Mol Genet Metab; 2008 Aug; 94(4):391-396. PubMed ID: 18524657 [TBL] [Abstract][Full Text] [Related]
36. Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. Ohto U; Usui K; Ochi T; Yuki K; Satow Y; Shimizu T J Biol Chem; 2012 Jan; 287(3):1801-12. PubMed ID: 22128166 [TBL] [Abstract][Full Text] [Related]
37. DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts. Fantur K; Hofer D; Schitter G; Steiner AJ; Pabst BM; Wrodnigg TM; Stütz AE; Paschke E Mol Genet Metab; 2010 Jul; 100(3):262-8. PubMed ID: 20409738 [TBL] [Abstract][Full Text] [Related]
38. Generation and characterization of recombinant feline beta-galactosidase for preclinical enzyme replacement therapy studies in GM1 gangliosidosis. Samoylova TI; Martin DR; Morrison NE; Hwang M; Cochran AM; Samoylov AM; Baker HJ; Cox NR Metab Brain Dis; 2008 Jun; 23(2):161-73. PubMed ID: 18421424 [TBL] [Abstract][Full Text] [Related]
39. N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a G Schalli M; Tysoe C; Fischer R; Pabst BM; Thonhofer M; Paschke E; Rappitsch T; Stütz AE; Tschernutter M; Windischhofer W; Withers SG Carbohydr Res; 2017 Apr; 443-444():15-22. PubMed ID: 28319682 [TBL] [Abstract][Full Text] [Related]
40. Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme. van der Spoel A; Bonten E; d'Azzo A J Biol Chem; 2000 Apr; 275(14):10035-40. PubMed ID: 10744681 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]