139 related articles for article (PubMed ID: 7904161)
1. 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]
2. 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]
3. 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]
4. [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]
5. 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]
6. Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
Dominissini S; Cariati R; Nevyjel M; Guerci V; Ciana G; Bembi B; Pittis MG
Hum Hered; 2004; 57(3):138-41. PubMed ID: 15297807
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Purification and characterization of human alpha-galactosidase A expressed in insect cells using a baculovirus vector.
Chen Y; Jin M; Goodrich L; Smith G; Coppola G; Calhoun DH
Protein Expr Purif; 2000 Nov; 20(2):228-36. PubMed ID: 11049747
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Expression and characterization of glycosylated and catalytically active recombinant human alpha-galactosidase A produced in Pichia pastoris.
Chen Y; Jin M; Egborge T; Coppola G; Andre J; Calhoun DH
Protein Expr Purif; 2000 Dec; 20(3):472-84. PubMed ID: 11087687
[TBL] [Abstract][Full Text] [Related]
11. [Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease].
Beĭer EM; Kopishinskaia SV; Ploos van Amstel JK; Tsvetkova IV
Vopr Med Khim; 1999; 45(4):346-9. PubMed ID: 10547886
[TBL] [Abstract][Full Text] [Related]
12. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
Fan JQ; Ishii S; Asano N; Suzuki Y
Nat Med; 1999 Jan; 5(1):112-5. PubMed ID: 9883849
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. A novel protease-resistant alpha-galactosidase with high hydrolytic activity from Gibberella sp. F75: gene cloning, expression, and enzymatic characterization.
Cao Y; Wang Y; Meng K; Bai Y; Shi P; Luo H; Yang P; Zhou Z; Zhang Z; Yao B
Appl Microbiol Biotechnol; 2009 Jul; 83(5):875-84. PubMed ID: 19288093
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Fabry disease (alpha-galactosidase deficiency)].
Okumiya T; Sakuraba H
Nihon Rinsho; 1995 Dec; 53(12):2952-9. PubMed ID: 8577042
[TBL] [Abstract][Full Text] [Related]
18. Cell-based screening of active-site specific chaperone for the treatment of Fabry disease.
Fan JQ; Ishii S
Methods Enzymol; 2003; 363():412-20. PubMed ID: 14579593
[No Abstract] [Full Text] [Related]
19. 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]
20. Cloning and expression of the gene encoding Streptomyces coelicolor A3(2) alpha-galactosidase belonging to family 36.
Kondoh K; Morisaki K; Kim WD; Park GG; Kaneko S; Kobayashi H
Biotechnol Lett; 2005 May; 27(9):641-7. PubMed ID: 15977071
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
