Articles with "mecp2 t158m" as a keyword



Photo by efekurnaz from unsplash

Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome–like phenotypes

Sign Up to like & get
recommendations!
Published in 2017 at "Journal of Clinical Investigation"

DOI: 10.1172/jci90967

Abstract: Mutations in the X-linked gene encoding methyl-CpG–binding protein 2 (MeCP2) cause Rett syndrome (RTT), a neurological disorder affecting cognitive development, respiration, and motor function. Genetic restoration of MeCP2 expression reverses RTT-like phenotypes in mice, highlighting… read more here.

Keywords: like phenotypes; mecp2 t158m; rett syndrome; mecp2 ... See more keywords