191 related articles for article (PubMed ID: 6420416)
1. 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]
2. Morquio B syndrome: a primary defect in beta-galactosidase.
van der Horst GT; Kleijer WJ; Hoogeveen AT; Huijmans JG; Blom W; van Diggelen OP
Am J Med Genet; 1983 Oct; 16(2):261-75. PubMed ID: 6418007
[TBL] [Abstract][Full Text] [Related]
3. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
Hinek A; Zhang S; Smith AC; Callahan JW
Am J Hum Genet; 2000 Jul; 67(1):23-36. PubMed ID: 10841810
[TBL] [Abstract][Full Text] [Related]
4. GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor.
Hoogeveen AT; Reuser AJ; Kroos M; Galjaard H
J Biol Chem; 1986 May; 261(13):5702-4. PubMed ID: 3084469
[TBL] [Abstract][Full Text] [Related]
5. Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency.
Mancini GM; Hoogeveen AT; Galjaard H; Mansson JE; Svennerholm L
Hum Genet; 1986 May; 73(1):35-8. PubMed ID: 3086209
[TBL] [Abstract][Full Text] [Related]
6. [Lysosomal beta-galactosidase properties and the molecular genetics of GM1 gangliosidosis].
Vel'tishchev IuE; Kalaidzhieva LV
Vopr Med Khim; 1979; 25(6):709-15. PubMed ID: 117628
[TBL] [Abstract][Full Text] [Related]
7. Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis.
Takiyama N; Itoh K; Shimmoto M; Nishimoto J; Inui K; Sakuraba H; Suzuki Y
Brain Dev; 1997 Mar; 19(2):126-30. PubMed ID: 9105659
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [Molecular genetics of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B)].
Yoshida K; Yanagisawa N
Nihon Rinsho; 1993 Sep; 51(9):2269-75. PubMed ID: 8411701
[TBL] [Abstract][Full Text] [Related]
10. Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.
Morreau H; Galjart NJ; Gillemans N; Willemsen R; van der Horst GT; d'Azzo A
J Biol Chem; 1989 Dec; 264(34):20655-63. PubMed ID: 2511208
[TBL] [Abstract][Full Text] [Related]
11. A microassay for acid beta-galactosidase activity toward asialofetuin.
Mutoh T; Naoi M; Sobue I; Kiuchi K; Nagatsu T
Clin Chim Acta; 1985 Nov; 152(3):307-14. PubMed ID: 2415273
[TBL] [Abstract][Full Text] [Related]
12. GM1 gangliosidosis: enzymatic variation in a single family.
Farrell DF; MacMartin MP
Ann Neurol; 1981 Mar; 9(3):232-6. PubMed ID: 6784663
[TBL] [Abstract][Full Text] [Related]
13. (5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
Front S; Biela-Banaś A; Burda P; Ballhausen D; Higaki K; Caciotti A; Morrone A; Charollais-Thoenig J; Gallienne E; Demotz S; Martin OR
Eur J Med Chem; 2017 Jan; 126():160-170. PubMed ID: 27750150
[TBL] [Abstract][Full Text] [Related]
14. [beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].
Yoshida K; Yanagisawa N
Nihon Rinsho; 1995 Dec; 53(12):2960-6. PubMed ID: 8577043
[TBL] [Abstract][Full Text] [Related]
15. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
Santamaria R; Chabás A; Coll MJ; Miranda CS; Vilageliu L; Grinberg D
Hum Mutat; 2006 Oct; 27(10):1060. PubMed ID: 16941474
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
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; Akinci G; Cereda C; Dionisi-Vici C; Deodato F; d'Amico A; d'Azzo A; Bertini E; Filocamo M; Scarpa M; di Rocco M; Tifft CJ; Ciani F; Gasperini S; Pasquini E; Guerrini R; Donati MA; Morrone A
Biochim Biophys Acta; 2011 Jul; 1812(7):782-90. PubMed ID: 21497194
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
Callahan JW
Biochim Biophys Acta; 1999 Oct; 1455(2-3):85-103. PubMed ID: 10571006
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
