The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100494
Abstract: The pharmacological chaperone migalastat is indicated for the treatment of Fabry disease in patients with an amenable GLA variant. Amenability is determined by an in vitro, good laboratory practice (GLP)-validated assay using HEK293 cells (GLP-HEK… read more here.
Keywords: migalastat; hek assay; fabry disease; amenability ... See more keywords
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
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DOI: 10.1038/gim.2016.122
Abstract: Purpose:Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity.Methods:A pharmacogenetic assay was… read more here.
Keywords: hek assay; validation pharmacogenetics; pharmacogenetics identification; fabry patients ... See more keywords
5th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities. April 25-27, 2017, Mexico City, Mexico: Abstracts
Sign Up to like & getrecommendations! Published in 2017 at "Nephron"
DOI: 10.1159/000475511
Abstract: s Nephron 2017;136:163–182 DOI: 10.1159/000475511 168 frame insertions/deletions, and multiple-site missense mutations may result in mutant forms amenable to the mechanism of action of migalastat. However, mutations that impair the synthesis of α-Gal A, severely… read more here.
Keywords: migalastat; hek assay; site; mutant forms ... See more keywords