Article
Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery.
Neuromuscular disorders : NMD - 1 Nov 2012
Mitrani-Rosenbaum Stella, Yakovlev Lena, Becker Cohen Michal, Telem Michal, Elbaz Moran, Yanay Nurit, Yotvat Hagit, Ben Shlomo Uri, Harazi Avi, Fellig Yakov, Argov Zohar, Sela Ilan
Abstract excerpt
GNE myopathy is an autosomal recessive adult onset disorder caused by mutations in the GNE gene. GNE encodes the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase, the key enzyme in the biosynthesis pathway of sialic acid. Additional functions for GNE have been described recently, but the mechanism leading from GNE mutation to this myopathy is unclear. Therefore a gene therapy...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.