280 related articles for article (PubMed ID: 1315715)
1. Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
Ishii S; Sakuraba H; Suzuki Y
Hum Genet; 1992 Apr; 89(1):29-32. PubMed ID: 1315715
[TBL] [Abstract][Full Text] [Related]
2. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
Sakuraba H; Oshima A; Fukuhara Y; Shimmoto M; Nagao Y; Bishop DF; Desnick RJ; Suzuki Y
Am J Hum Genet; 1990 Nov; 47(5):784-9. PubMed ID: 2171331
[TBL] [Abstract][Full Text] [Related]
3. Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Sawada K; Mizoguchi K; Hishida A; Kaneko E; Koide Y; Nishimura K; Kimura M
Clin Nephrol; 1996 May; 45(5):289-94. PubMed ID: 8738659
[TBL] [Abstract][Full Text] [Related]
4. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
Park JY; Kim GH; Kim SS; Ko JM; Lee JJ; Yoo HW
Exp Mol Med; 2009 Jan; 41(1):1-7. PubMed ID: 19287194
[TBL] [Abstract][Full Text] [Related]
5. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
Ishii S; Nakao S; Minamikawa-Tachino R; Desnick RJ; Fan JQ
Am J Hum Genet; 2002 Apr; 70(4):994-1002. PubMed ID: 11828341
[TBL] [Abstract][Full Text] [Related]
6. Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Okumiya T; Ishii S; Kase R; Kamei S; Sakuraba H; Suzuki Y
Hum Genet; 1995 May; 95(5):557-61. PubMed ID: 7759078
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
Bernstein HS; Bishop DF; Astrin KH; Kornreich R; Eng CM; Sakuraba H; Desnick RJ
J Clin Invest; 1989 Apr; 83(4):1390-9. PubMed ID: 2539398
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
László A; Török L; Raffai S; Török E; Sallay E; Endreffy E; Morvai L; van Amstel JK
Ideggyogy Sz; 2012 Jan; 65(1-2):35-9. PubMed ID: 22338844
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
Kase R; Bierfreund U; Klein A; Kolter T; Utsumi K; Itoha K; Sandhoff K; Sakuraba H
Biochim Biophys Acta; 2000 Jun; 1501(2-3):227-35. PubMed ID: 10838196
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Shimotori M; Maruyama H; Nakamura G; Suyama T; Sakamoto F; Itoh M; Miyabayashi S; Ohnishi T; Sakai N; Wataya-Kaneda M; Kubota M; Takahashi T; Mori T; Tamura K; Kageyama S; Shio N; Maeba T; Yahagi H; Tanaka M; Oka M; Sugiyama H; Sugawara T; Mori N; Tsukamoto H; Tamagaki K; Tanda S; Suzuki Y; Shinonaga C; Miyazaki J; Ishii S; Gejyo F
Hum Mutat; 2008 Feb; 29(2):331. PubMed ID: 18205205
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
Filoni C; Caciotti A; Carraresi L; Donati MA; Mignani R; Parini R; Filocamo M; Soliani F; Simi L; Guerrini R; Zammarchi E; Morrone A
Eur J Hum Genet; 2008 Nov; 16(11):1311-7. PubMed ID: 18560446
[TBL] [Abstract][Full Text] [Related]
15. Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.
Togawa T; Tsukimura T; Kodama T; Tanaka T; Kawashima I; Saito S; Ohno K; Fukushige T; Kanekura T; Satomura A; Kang DH; Lee BH; Yoo HW; Doi K; Noiri E; Sakuraba H
Mol Genet Metab; 2012 Apr; 105(4):615-20. PubMed ID: 22305854
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.
Zhou C; Huang J; Cui G; Zeng H; Wang DW; Zhou Q
BMC Med Genet; 2018 Dec; 19(1):219. PubMed ID: 30587147
[TBL] [Abstract][Full Text] [Related]
17. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Eng CM; Resnick-Silverman LA; Niehaus DJ; Astrin KH; Desnick RJ
Am J Hum Genet; 1993 Dec; 53(6):1186-97. PubMed ID: 7504405
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Identification of four novel mutations in five unrelated Korean families with Fabry disease.
Lee JK; Kim GH; Kim JS; Kim KK; Lee MC; Yoo HW
Clin Genet; 2000 Sep; 58(3):228-33. PubMed ID: 11076046
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
