162 related articles for article (PubMed ID: 1817034)
1. Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency.
Suzuki Y; Sakuraba H; Oshima A; Yoshida K; Shimmoto M; Takano T; Fukuhara Y
Dev Neurosci; 1991; 13(4-5):299-303. PubMed ID: 1817034
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts.
D'Agrosa RM; Hubbes M; Zhang S; Shankaran R; Callahan JW
Biochem J; 1992 Aug; 285 ( Pt 3)(Pt 3):833-8. PubMed ID: 1497621
[TBL] [Abstract][Full Text] [Related]
5. Protective protein gene mutations in galactosialidosis.
Shimmoto M; Fukuhara Y; Itoh K; Oshima A; Sakuraba H; Suzuki Y
J Clin Invest; 1993 Jun; 91(6):2393-8. PubMed ID: 8514852
[TBL] [Abstract][Full Text] [Related]
6. Cathepsin A/protective protein: an unusual lysosomal multifunctional protein.
Hiraiwa M
Cell Mol Life Sci; 1999 Dec; 56(11-12):894-907. PubMed ID: 11212324
[TBL] [Abstract][Full Text] [Related]
7. [Genetic advances in galactosialidosis].
Hirasawa M
Nihon Rinsho; 1993 Sep; 51(9):2319-23. PubMed ID: 8411708
[TBL] [Abstract][Full Text] [Related]
8. Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology.
Pshezhetsky AV; Ashmarina M
Prog Nucleic Acid Res Mol Biol; 2001; 69():81-114. PubMed ID: 11550799
[TBL] [Abstract][Full Text] [Related]
9. Heterogeneity of carboxypeptidase activity in infantile-onset galactosialidosis.
Ozand PT; Gascon GG
J Child Neurol; 1992 Apr; 7 Suppl():S31-40. PubMed ID: 1588013
[TBL] [Abstract][Full Text] [Related]
10. Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.
Chakraborty S; Rafi MA; Wenger DA
Am J Hum Genet; 1994 Jun; 54(6):1004-13. PubMed ID: 8198123
[TBL] [Abstract][Full Text] [Related]
11. Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.
Ishii N; Oshima A; Sakuraba H; Fukuyama Y; Suzuki Y
Pediatr Neurol; 1994 Jun; 10(4):317-9. PubMed ID: 8068159
[TBL] [Abstract][Full Text] [Related]
12. Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.
Richard C; Tranchemontagne J; Elsliger MA; Mitchell GA; Potier M; Pshezhetsky AV
Hum Mutat; 1998; 11(6):461-9. PubMed ID: 9603439
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [Molecular pathology of neurogenetic diseases].
Suzuki Y
No To Hattatsu; 1995 Mar; 27(2):89-95. PubMed ID: 7727158
[TBL] [Abstract][Full Text] [Related]
15. Lysosomal multienzyme complex: pros and cons of working together.
Bonten EJ; Annunziata I; d'Azzo A
Cell Mol Life Sci; 2014 Jun; 71(11):2017-32. PubMed ID: 24337808
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis.
Suzuki Y; Oshima A
Hum Genet; 1993 May; 91(4):407. PubMed ID: 8500799
[No Abstract] [Full Text] [Related]
18. 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]
19. Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases.
Galjart NJ; Gillemans N; Harris A; van der Horst GT; Verheijen FW; Galjaard H; d'Azzo A
Cell; 1988 Sep; 54(6):755-64. PubMed ID: 3136930
[TBL] [Abstract][Full Text] [Related]
20. beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Morrone A; Bardelli T; Donati MA; Giorgi M; Di Rocco M; Gatti R; Parini R; Ricci R; Taddeucci G; D'Azzo A; Zammarchi E
Hum Mutat; 2000; 15(4):354-66. PubMed ID: 10737981
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]