368 related articles for article (PubMed ID: 17661814)
1. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
Gort L; Santamaria R; Grinberg D; Vilageliu L; Chabás A
Clin Genet; 2007 Aug; 72(2):109-11. PubMed ID: 17661814
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D; Paul K; Fantur K; Beck M; Bürger F; Caillaud C; Fumic K; Ledvinova J; Lugowska A; Michelakakis H; Radeva B; Ramaswami U; Plecko B; Paschke E
Hum Mutat; 2009 Aug; 30(8):1214-21. PubMed ID: 19472408
[TBL] [Abstract][Full Text] [Related]
4. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D; Paul K; Fantur K; Beck M; Roubergue A; Vellodi A; Poorthuis BJ; Michelakakis H; Plecko B; Paschke E
Clin Genet; 2010 Sep; 78(3):236-46. PubMed ID: 20175788
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
Santamaria R; Blanco M; Chabás A; Grinberg D; Vilageliu L
Clin Genet; 2007 Mar; 71(3):273-9. PubMed ID: 17309651
[TBL] [Abstract][Full Text] [Related]
7. The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Georgiou T; Stylianidou G; Anastasiadou V; Caciotti A; Campos Y; Zammarchi E; Morrone A; D'azzo A; Drousiotou A
Genet Test; 2005; 9(2):126-32. PubMed ID: 15943552
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Georgiou T; Drousiotou A; Campos Y; Caciotti A; Sztriha L; Gururaj A; Ozand P; Zammarchi E; Morrone A; D'Azzo A
Hum Mutat; 2004 Oct; 24(4):352. PubMed ID: 15365997
[TBL] [Abstract][Full Text] [Related]
10. Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
Silva CM; Severini MH; Sopelsa A; Coelho JC; Zaha A; d'Azzo A; Giugliani R
Hum Mutat; 1999; 13(5):401-9. PubMed ID: 10338095
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Rapid and accurate G M1-gangliosidosis diagnosis using a parentage testing microsatellite.
Kreutzer R; Kreutzer M; Leeb T; Baumgärtner W
Mol Cell Probes; 2008 Aug; 22(4):252-4. PubMed ID: 18562164
[TBL] [Abstract][Full Text] [Related]
13. A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies.
Kreutzer R; Leeb T; Müller G; Moritz A; Baumgärtner W
Genetics; 2005 Aug; 170(4):1857-61. PubMed ID: 15944348
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
Sperb F; Vairo F; Burin M; Mayer FQ; Matte U; Giugliani R
Gene; 2013 Jan; 512(1):113-6. PubMed ID: 23046582
[TBL] [Abstract][Full Text] [Related]
16. Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
Richter JE; Zimmermann MT; Blackburn PR; Mohammad AN; Klee EW; Pollard LM; Macmurdo CF; Atwal PS; Caulfield TR
Mol Genet Genomic Med; 2018 Nov; 6(6):1229-1235. PubMed ID: 30187681
[TBL] [Abstract][Full Text] [Related]
17. Recurrent and novel GLB1 mutations in India.
Bidchol AM; Dalal A; Trivedi R; Shukla A; Nampoothiri S; Sankar VH; Danda S; Gupta N; Kabra M; Hebbar SA; Bhat RY; Matta D; Ekbote AV; Puri RD; Phadke SR; Gowrishankar K; Aggarwal S; Ranganath P; Sharda S; Kamate M; Datar CA; Bhat K; Kamath N; Shah H; Krishna S; Gopinath PM; Verma IC; Nagarajaram HA; Satyamoorthy K; Girisha KM
Gene; 2015 Aug; 567(2):173-81. PubMed ID: 25936995
[TBL] [Abstract][Full Text] [Related]
18. [Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis].
Cheng S; Wang Q; Chen A; Zhou L; Hong X; Yuan H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 May; 39(5):537-541. PubMed ID: 35598274
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Caciotti A; Bardelli T; Cunningham J; D'Azzo A; Zammarchi E; Morrone A
Hum Genet; 2003 Jul; 113(1):44-50. PubMed ID: 12644936
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
