SciCombinator

Discover the most talked about and latest scientific content & concepts.

DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, K Nedd, G Vockley, T Hamazaki, R Lachmann, T Ohashi, I Olivotto, N Sakai, P Deegan, D Dimmock, F Eyskens, DP Germain, O Goker-Alpan, E Hachulla, A Jovanovic, CM Lourenco, I Narita, M Thomas, WR Wilcox, DG Bichet, R Schiffmann, E Ludington, C Viereck, J Kirk, J Yu, F Johnson, P Boudes, ER Benjamin, DJ Lockhart, C Barlow, N Skuban, JP Castelli, J Barth and U Feldt-Rasmussen
Abstract
Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking.
Tweets*
11
Facebook likes*
1
Reddit*
0
News coverage*
12
Blogs*
1
SC clicks
0
Concepts
Enzyme, Therapy, Medicine, Fabry disease, Enzyme replacement therapy, Lysosomal storage disease
MeSH headings
-
comments powered by Disqus

* Data courtesy of Altmetric.com