Article
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
PloS one - 1 Jan 2013
Young-Gqamana Brandy, Brignol Nastry, Chang Hui-Hwa, Khanna Richie, Soska Rebecca, Fuller Maria, Sitaraman Sheela A, Germain Dominique P, Giugliani Roberto, Hughes Derralynn A, Mehta Atul, Nicholls Kathy, Boudes Pol, Lockhart David J, Valenzano Kenneth J, Benjamin Elfrida R
Abstract excerpt
Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3). Migalastat hydrochloride (GR181413A) is a pharmacological chaperone that selectively binds, stabilizes, and increases cellular levels of α-Gal A. Oral administration of migalastat...
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