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Germain, Dominique P; Hughes, Derralynn A; Nicholls, Kathleen; Bichet, Daniel G; Giugliani, Roberto; Wilcox, William R; Feliciani, Claudio; Shankar, Suma P; Ezgu, Fatih; Amartino, Hernan; Bratkovic, Drago; Feldt-Rasmussen, Ulla; Nedd, Khan; Sharaf El Din, Usama; Lourenco, Charles M; Banikazemi, Maryam; Charrow, Joel; Dasouki, Majed; Finegold, David; Giraldo, Pilar; Goker-Alpan, Ozlem; Longo, Nicola; Scott, C. Ronald; Torra, Roser; Tuffaha, Ahmad; Jovanovic, Ana; Waldek, Stephen; Packman, Seymour; Ludington, Elizabeth; Viereck, Christopher; Kirk, John; Yu, Julie; Benjamin, Elfrida R; Johnson, Franklin; Lockhart, David J; Skuban, Nina; Castelli, Jeff; Barth, Jay; Barlow, Carrolee; Schiffmann, Raphael
The New England journal of medicine, 08/2016, Letnik: 375, Številka: 6Journal Article
Migalastat stabilizes mutant α-galactosidase in Fabry's disease, reducing globotriaosylceramide deposition. In this study, the percentage of patients with a decrease of 50% or more in kidney interstitial capillary deposition at 6 months was similar in the migalastat and placebo groups. Fabry’s disease is a rare, progressive, and devastating X-linked disorder caused by the functional deficiency of lysosomal α-galactosidase. 1 The resultant accumulation of glycosphingolipids, predominantly globotriaosylceramide (GL-3), can lead to multisystem disease and early death. 2 Binding of the pharmacologic chaperone migalastat to the active site of α-galactosidase stabilizes certain mutant enzymes, thus facilitating proper trafficking to lysosomes, where dissociation of migalastat allows α-galactosidase to catabolize accumulated substrates. 3 – 7 In patients with mutant enzymes that are identified with the validated assay, orally administered migalastat may be an alternative treatment option for addressing certain unmet medical needs associated with enzyme-replacement therapy — for . . .
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in: SICRIS
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