226 related articles for article (PubMed ID: 31393666)
21. A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
Wu X; Katz E; Della Valle MC; Mascioli K; Flanagan JJ; Castelli JP; Schiffmann R; Boudes P; Lockhart DJ; Valenzano KJ; Benjamin ER
Hum Mutat; 2011 Aug; 32(8):965-77. PubMed ID: 21598360
[TBL] [Abstract][Full Text] [Related]
22. Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M; Ohashi T; Kaneshiro E; Higuchi T; Ida H
J Hum Genet; 2019 Jul; 64(7):695-699. PubMed ID: 30988410
[TBL] [Abstract][Full Text] [Related]
23. Assessment of plasma lyso-Gb
Bichet DG; Aerts JM; Auray-Blais C; Maruyama H; Mehta AB; Skuban N; Krusinska E; Schiffmann R
Genet Med; 2021 Jan; 23(1):192-201. PubMed ID: 32994552
[TBL] [Abstract][Full Text] [Related]
24. Chaperone Therapy in Fabry Disease.
Weidemann F; Jovanovic A; Herrmann K; Vardarli I
Int J Mol Sci; 2022 Feb; 23(3):. PubMed ID: 35163813
[TBL] [Abstract][Full Text] [Related]
25. Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year.
Müntze J; Gensler D; Maniuc O; Liu D; Cairns T; Oder D; Hu K; Lorenz K; Frantz S; Wanner C; Nordbeck P
Clin Pharmacol Ther; 2019 May; 105(5):1224-1233. PubMed ID: 30506669
[TBL] [Abstract][Full Text] [Related]
26. Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.
Feldt-Rasmussen U; Hughes D; Sunder-Plassmann G; Shankar S; Nedd K; Olivotto I; Ortiz D; Ohashi T; Hamazaki T; Skuban N; Yu J; Barth JA; Nicholls K
Mol Genet Metab; 2020; 131(1-2):219-228. PubMed ID: 33012654
[TBL] [Abstract][Full Text] [Related]
27. Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
Welford RWD; Mühlemann A; Garzotti M; Rickert V; Groenen PMA; Morand O; Üçeyler N; Probst MR
Hum Mol Genet; 2018 Oct; 27(19):3392-3403. PubMed ID: 29982630
[TBL] [Abstract][Full Text] [Related]
28. Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.
Braunstein H; Papazian M; Maor G; Lukas J; Rolfs A; Horowitz M
Int J Mol Sci; 2020 Oct; 21(19):. PubMed ID: 33036426
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP; Hughes DA; Nicholls K; Bichet DG; Giugliani R; Wilcox WR; Feliciani C; Shankar SP; Ezgu F; Amartino H; Bratkovic D; Feldt-Rasmussen U; Nedd K; Sharaf El Din U; Lourenco CM; Banikazemi M; Charrow J; Dasouki M; Finegold D; Giraldo P; Goker-Alpan O; Longo N; Scott CR; Torra R; Tuffaha A; Jovanovic A; Waldek S; Packman S; Ludington E; Viereck C; Kirk J; Yu J; Benjamin ER; Johnson F; Lockhart DJ; Skuban N; Castelli J; Barth J; Barlow C; Schiffmann R
N Engl J Med; 2016 Aug; 375(6):545-55. PubMed ID: 27509102
[TBL] [Abstract][Full Text] [Related]
31. [Chaperone molecules: The example of Fabry disease].
Barbey F; Monney P; Dormond O
Nephrol Ther; 2021 Apr; 17S():S11-S22. PubMed ID: 33910691
[TBL] [Abstract][Full Text] [Related]
32. Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
Germain DP; Giugliani R; Hughes DA; Mehta A; Nicholls K; Barisoni L; Jennette CJ; Bragat A; Castelli J; Sitaraman S; Lockhart DJ; Boudes PF
Orphanet J Rare Dis; 2012 Nov; 7():91. PubMed ID: 23176611
[TBL] [Abstract][Full Text] [Related]
33. A review and recommendations for oral chaperone therapy in adult patients with Fabry disease.
Nowicki M; Bazan-Socha S; Błażejewska-Hyżorek B; Kłopotowski MM; Komar M; Kusztal MA; Liberek T; Małyszko J; Mizia-Stec K; Oko-Sarnowska Z; Pawlaczyk K; Podolec P; Sławek J;
Orphanet J Rare Dis; 2024 Jan; 19(1):16. PubMed ID: 38238782
[TBL] [Abstract][Full Text] [Related]
34. Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
Lenders M; Nordbeck P; Kurschat C; Eveslage M; Karabul N; Kaufeld J; Hennermann JB; Patten M; Cybulla M; Müntze J; Üçeyler N; Liu D; Das AM; Sommer C; Pogoda C; Reiermann S; Duning T; Gaedeke J; von Cossel K; Blaschke D; Brand SM; Mann WA; Kampmann C; Muschol N; Canaan-Kühl S; Brand E
Eur Heart J Cardiovasc Pharmacother; 2022 May; 8(3):272-281. PubMed ID: 35512362
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
Varela P; Mastroianni Kirsztajn G; Ferrer H; Aranda C; Wallbach K; Ferreira da Mata G; Moura LA; Moreira SR; Mendes C; Curiati MA; Martins AM; Bosco Pesquero J
Nephron; 2020; 144(3):147-155. PubMed ID: 31665721
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Fabry Disease: The Current Treatment Landscape.
Lenders M; Brand E
Drugs; 2021 Apr; 81(6):635-645. PubMed ID: 33721270
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Lavalle L; Thomas AS; Beaton B; Ebrahim H; Reed M; Ramaswami U; Elliott P; Mehta AB; Hughes DA
PLoS One; 2018; 13(4):e0193550. PubMed ID: 29621274
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
