576 related articles for article (PubMed ID: 14635108)
1. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
[TBL] [Abstract][Full Text] [Related]
2. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Froissart R; Guffon N; Vanier MT; Desnick RJ; Maire I
Mol Genet Metab; 2003 Nov; 80(3):307-14. PubMed ID: 14680977
[TBL] [Abstract][Full Text] [Related]
3. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
J Investig Med; 2000 Jul; 48(4):227-35. PubMed ID: 10916280
[TBL] [Abstract][Full Text] [Related]
4. Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
Ishii S; Suzuki Y; Fan JQ
Arch Biochem Biophys; 2000 May; 377(2):228-33. PubMed ID: 10845698
[TBL] [Abstract][Full Text] [Related]
5. A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
Miyamura N; Araki E; Matsuda K; Yoshimura R; Furukawa N; Tsuruzoe K; Shirotani T; Kishikawa H; Yamaguchi K; Shichiri M
J Clin Invest; 1996 Oct; 98(8):1809-17. PubMed ID: 8878432
[TBL] [Abstract][Full Text] [Related]
6. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J; Robinson M; Desnick RJ
Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
[TBL] [Abstract][Full Text] [Related]
7. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
Garman SC; Garboczi DN
J Mol Biol; 2004 Mar; 337(2):319-35. PubMed ID: 15003450
[TBL] [Abstract][Full Text] [Related]
8. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP; Poenaru L
Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
[TBL] [Abstract][Full Text] [Related]
9. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA; Shabbeer J; Yasuda M; Eng CM; Desnick RJ
J Hum Genet; 2001; 46(4):192-6. PubMed ID: 11322659
[TBL] [Abstract][Full Text] [Related]
10. [alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].
Okumiya T; Takata T; Sasaki M; Sakuraba H
Rinsho Byori; 1997 Feb; 45(2):127-35. PubMed ID: 9120996
[TBL] [Abstract][Full Text] [Related]
11. Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease.
Ishii S; Kase R; Sakuraba H; Suzuki Y
Biochem Biophys Res Commun; 1993 Dec; 197(3):1585-9. PubMed ID: 7904161
[TBL] [Abstract][Full Text] [Related]
12. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
Okumiya T; Ishii S; Takenaka T; Kase R; Kamei S; Sakuraba H; Suzuki Y
Biochem Biophys Res Commun; 1995 Sep; 214(3):1219-24. PubMed ID: 7575533
[TBL] [Abstract][Full Text] [Related]
13. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S; Chang HH; Kawasaki K; Yasuda K; Wu HL; Garman SC; Fan JQ
Biochem J; 2007 Sep; 406(2):285-95. PubMed ID: 17555407
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM; Desnick RJ
Hum Mutat; 1994; 3(2):103-11. PubMed ID: 7911050
[TBL] [Abstract][Full Text] [Related]
16. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
Lee BH; Heo SH; Kim GH; Park JY; Kim WS; Kang DH; Choe KH; Kim WH; Yang SH; Yoo HW
J Hum Genet; 2010 Aug; 55(8):512-7. PubMed ID: 20505683
[TBL] [Abstract][Full Text] [Related]
17. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A; Coll MJ; Chabás A
Hum Mutat; 2003 Sep; 22(3):258. PubMed ID: 12938095
[TBL] [Abstract][Full Text] [Related]
18. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J; Yasuda M; Benson SD; Desnick RJ
Hum Genomics; 2006 Mar; 2(5):297-309. PubMed ID: 16595074
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
Chen CH; Shyu PW; Wu SJ; Sheu SS; Desnick RJ; Hsiao KJ
Hum Mutat; 1998; 11(4):328-30. PubMed ID: 9554750
[TBL] [Abstract][Full Text] [Related]
20. The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Hasholt L; Ballegaard M; Bundgaard H; Christiansen M; Law I; Lund AM; Norremolle A; Krogh Rasmussen A; Ravn K; Tumer Z; Wibrand F; Feldt-Rasmussen U
Scand J Clin Lab Invest; 2017 Dec; 77(8):617-621. PubMed ID: 29037082
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
