263 related articles for article (PubMed ID: 16531566)
1. 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]
2. 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]
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. 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]
5. Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
Porto C; Pisani A; Rosa M; Acampora E; Avolio V; Tuzzi MR; Visciano B; Gagliardo C; Materazzi S; la Marca G; Andria G; Parenti G
J Inherit Metab Dis; 2012 May; 35(3):513-20. PubMed ID: 22187137
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.
Mohamed FE; Al Sorkhy M; Ghattas MA; Al-Gazali L; Al-Dirbashi O; Al-Jasmi F; Ali BR
Hum Genet; 2020 May; 139(5):657-673. PubMed ID: 32219518
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.
Khanna R; Soska R; Lun Y; Feng J; Frascella M; Young B; Brignol N; Pellegrino L; Sitaraman SA; Desnick RJ; Benjamin ER; Lockhart DJ; Valenzano KJ
Mol Ther; 2010 Jan; 18(1):23-33. PubMed ID: 19773742
[TBL] [Abstract][Full Text] [Related]
12. Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability.
Lieberman RL; D'aquino JA; Ringe D; Petsko GA
Biochemistry; 2009 Jun; 48(22):4816-27. PubMed ID: 19374450
[TBL] [Abstract][Full Text] [Related]
13. Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).
Thirumal Kumar D; Judith E; Priyadharshini Christy J; Siva R; Tayubi IA; Chakraborty C; George Priya Doss C; Zayed H
Adv Protein Chem Struct Biol; 2019; 114():341-407. PubMed ID: 30635085
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J; Cimmaruta C; Liguori L; Pantoom S; Iwanov K; Petters J; Hund C; Bunschkowski M; Hermann A; Cubellis MV; Rolfs A
Int J Mol Sci; 2020 Jan; 21(3):. PubMed ID: 32023956
[TBL] [Abstract][Full Text] [Related]
16. 4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality.
Yam GH; Roth J; Zuber C
Biochem Biophys Res Commun; 2007 Aug; 360(2):375-80. PubMed ID: 17592721
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA; Nicholls K; Shankar SP; Sunder-Plassmann G; Koeller D; Nedd K; Vockley G; Hamazaki T; Lachmann R; Ohashi T; Olivotto I; Sakai N; Deegan P; Dimmock D; Eyskens F; Germain DP; Goker-Alpan O; Hachulla E; Jovanovic A; Lourenco CM; Narita I; Thomas M; Wilcox WR; Bichet DG; Schiffmann R; Ludington E; Viereck C; Kirk J; Yu J; Johnson F; Boudes P; Benjamin ER; Lockhart DJ; Barlow C; Skuban N; Castelli JP; Barth J; Feldt-Rasmussen U
J Med Genet; 2017 Apr; 54(4):288-296. PubMed ID: 27834756
[TBL] [Abstract][Full Text] [Related]
20. Molecular interaction of imino sugars with human alpha-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease.
Sugawara K; Tajima Y; Kawashima I; Tsukimura T; Saito S; Ohno K; Iwamoto K; Kobayashi T; Itoh K; Sakuraba H
Mol Genet Metab; 2009 Apr; 96(4):233-8. PubMed ID: 19181556
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
