Ontology highlight
ABSTRACT:
SUBMITTER: Young-Gqamana B
PROVIDER: S-EPMC3589404 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Young-Gqamana Brandy B Brignol Nastry N Chang Hui-Hwa HH Khanna Richie R Soska Rebecca R Fuller Maria M Sitaraman Sheela A SA Germain Dominique P DP Giugliani Roberto R Hughes Derralynn A DA Mehta Atul A Nicholls Kathy K Boudes Pol P Lockhart David J DJ Valenzano Kenneth J KJ Benjamin Elfrida R ER
PloS one 20130305 3
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 HCl reduces tissue GL-3 in Fabry transgenic mice, and in urine and kidneys of some FD ...[more]