267 related articles for article (PubMed ID: 19644515)
21. [Structural basis for β-galactosidase associated with lysosomal disease].
Shimizu T
Yakugaku Zasshi; 2013; 133(5):509-17. PubMed ID: 23649392
[TBL] [Abstract][Full Text] [Related]
22. Structural basis of pharmacological chaperoning for human β-galactosidase.
Suzuki H; Ohto U; Higaki K; Mena-Barragán T; Aguilar-Moncayo M; Ortiz Mellet C; Nanba E; Garcia Fernandez JM; Suzuki Y; Shimizu T
J Biol Chem; 2014 May; 289(21):14560-8. PubMed ID: 24737316
[TBL] [Abstract][Full Text] [Related]
23. [beta-Galactosidosis (acid beta-galactosidase deficiency: GM1 gangliosidosis, Morquio B disease)].
Nishigaki T; Okada S
Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):403-6. PubMed ID: 9645093
[No Abstract] [Full Text] [Related]
24. Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis.
Celtikçi B; Aydın Hİ; Sivri S; Sönmez M; Topçu M; Ozkara HA
Clin Biochem; 2012 May; 45(7-8):571-4. PubMed ID: 22234367
[TBL] [Abstract][Full Text] [Related]
25. SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L; Przybilla MJ; Whitley CB
Clin Genet; 2018 May; 93(5):1008-1014. PubMed ID: 29396849
[TBL] [Abstract][Full Text] [Related]
26. Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.
Fantur KM; Wrodnigg TM; Stütz AE; Pabst BM; Paschke E
J Inherit Metab Dis; 2012 May; 35(3):495-503. PubMed ID: 22033734
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.
Przybilla MJ; Ou L; Tăbăran AF; Jiang X; Sidhu R; Kell PJ; Ory DS; O'Sullivan MG; Whitley CB
Mol Genet Metab; 2019 Feb; 126(2):139-150. PubMed ID: 30528226
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Sugawara K; Saito S; Sekijima M; Ohno K; Tajima Y; Kroos MA; Reuser AJ; Sakuraba H
J Hum Genet; 2009 Jun; 54(6):324-30. PubMed ID: 19343043
[TBL] [Abstract][Full Text] [Related]
31. GM1 gangliosidosis: phenotypic variation in a single family.
Farrell DF; Ochs U
Ann Neurol; 1981 Mar; 9(3):225-31. PubMed ID: 6784662
[TBL] [Abstract][Full Text] [Related]
32. [Molecular pathology of neurogenetic diseases].
Suzuki Y
No To Hattatsu; 1995 Mar; 27(2):89-95. PubMed ID: 7727158
[TBL] [Abstract][Full Text] [Related]
33. Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
Oshima A; Yoshida K; Itoh K; Kase R; Sakuraba H; Suzuki Y
Hum Genet; 1994 Feb; 93(2):109-14. PubMed ID: 8112731
[TBL] [Abstract][Full Text] [Related]
34. Structural basis of aspartylglucosaminuria.
Saito S; Ohno K; Sugawara K; Suzuki T; Togawa T; Sakuraba H
Biochem Biophys Res Commun; 2008 Dec; 377(4):1168-72. PubMed ID: 18992224
[TBL] [Abstract][Full Text] [Related]
35. Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
Paschke E; Milos I; Kreimer-Erlacher H; Hoefler G; Beck M; Hoeltzenbein M; Kleijer W; Levade T; Michelakakis H; Radeva B
Hum Genet; 2001 Aug; 109(2):159-66. PubMed ID: 11511921
[TBL] [Abstract][Full Text] [Related]
36. Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome.
Hoogeveen AT; Graham-Kawashima H; d'Azzo A; Galjaard H
J Biol Chem; 1984 Feb; 259(3):1974-7. PubMed ID: 6420416
[TBL] [Abstract][Full Text] [Related]
37. Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.
Drousiotou A; Georgiou T; Drousiotou A; Campos Y; Caciotti A; Sztriha L; Gururaj A; Ozand P; Zammarchi E; Morrone A; d Azzo A
Hum Genet; 2005 May; 116(6):542. PubMed ID: 15991326
[No Abstract] [Full Text] [Related]
38. The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.
Caciotti A; Donati MA; d'Azzo A; Salvioli R; Guerrini R; Zammarchi E; Morrone A
Eur J Paediatr Neurol; 2009 Mar; 13(2):160-4. PubMed ID: 18571950
[TBL] [Abstract][Full Text] [Related]
39. GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.
Yoshida K; Oshima A; Sakuraba H; Nakano T; Yanagisawa N; Inui K; Okada S; Uyama E; Namba R; Kondo K
Ann Neurol; 1992 Mar; 31(3):328-32. PubMed ID: 1353343
[TBL] [Abstract][Full Text] [Related]
40. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
Santamaria R; Chabás A; Callahan JW; Grinberg D; Vilageliu L
J Lipid Res; 2007 Oct; 48(10):2275-82. PubMed ID: 17664528
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]