13. A pharmacogenetic approach to pharmacological chaperonetherapy for Fabry disease

A pharmacogenetic approach to identify m

A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease

✍ Xiaoyang Wu; Evan Katz; Maria Cecilia Della Valle; Kirsten Mascioli; John J. Fla 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 489 KB

Fabry disease is caused by mutations in the gene (__GLA)__ that encodes α-galactosidase A (α-Gal A). The iminosugar AT1001 (GR181413A, migalastat hydrochloride, 1-deoxygalactonojirimycin) is a pharmacological chaperone that selectively binds and stabilizes α-Gal A, increasing total cellular levels a