614 related articles for article (PubMed ID: 17555407)
1. 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]
2. Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes.
Hamanaka R; Shinohara T; Yano S; Nakamura M; Yasuda A; Yokoyama S; Fan JQ; Kawasaki K; Watanabe M; Ishii S
Biochim Biophys Acta; 2008 Jun; 1782(6):408-13. PubMed ID: 18381081
[TBL] [Abstract][Full Text] [Related]
3. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
Benjamin ER; Flanagan JJ; Schilling A; Chang HH; Agarwal L; Katz E; Wu X; Pine C; Wustman B; Desnick RJ; Lockhart DJ; Valenzano KJ
J Inherit Metab Dis; 2009 Jun; 32(3):424-40. PubMed ID: 19387866
[TBL] [Abstract][Full Text] [Related]
4. Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease.
Ishii S; Yoshioka H; Mannen K; Kulkarni AB; Fan JQ
Biochim Biophys Acta; 2004 Nov; 1690(3):250-7. PubMed ID: 15511632
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
Yam GH; Bosshard N; Zuber C; Steinmann B; Roth J
Am J Physiol Cell Physiol; 2006 Apr; 290(4):C1076-82. PubMed ID: 16531566
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants.
Yu Y; Mena-Barragán T; Higaki K; Johnson JL; Drury JE; Lieberman RL; Nakasone N; Ninomiya H; Tsukimura T; Sakuraba H; Suzuki Y; Nanba E; Mellet CO; García Fernández JM; Ohno K
ACS Chem Biol; 2014 Jul; 9(7):1460-9. PubMed ID: 24783948
[TBL] [Abstract][Full Text] [Related]
12. Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies.
Germain DP; Fan JQ
Int J Clin Pharmacol Ther; 2009; 47 Suppl 1():S111-7. PubMed ID: 20040321
[TBL] [Abstract][Full Text] [Related]
13. Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease.
Ishii S; Chang HH; Yoshioka H; Shimada T; Mannen K; Higuchi Y; Taguchi A; Fan JQ
J Pharmacol Exp Ther; 2009 Mar; 328(3):723-31. PubMed ID: 19106170
[TBL] [Abstract][Full Text] [Related]
14. A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder.
Yam GH; Zuber C; Roth J
FASEB J; 2005 Jan; 19(1):12-8. PubMed ID: 15629890
[TBL] [Abstract][Full Text] [Related]
15. Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.
Fan JQ; Ishii S
FEBS J; 2007 Oct; 274(19):4962-71. PubMed ID: 17894781
[TBL] [Abstract][Full Text] [Related]
16. In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives.
Asano N; Ishii S; Kizu H; Ikeda K; Yasuda K; Kato A; Martin OR; Fan JQ
Eur J Biochem; 2000 Jul; 267(13):4179-86. PubMed ID: 10866822
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. The molecular basis of pharmacological chaperoning in human α-galactosidase.
Guce AI; Clark NE; Rogich JJ; Garman SC
Chem Biol; 2011 Dec; 18(12):1521-6. PubMed ID: 22195554
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
Siekierska A; De Baets G; Reumers J; Gallardo R; Rudyak S; Broersen K; Couceiro J; Van Durme J; Schymkowitz J; Rousseau F
J Biol Chem; 2012 Aug; 287(34):28386-97. PubMed ID: 22773828
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
