Article
Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses.
Nature neuroscience - 27 Nov 2011
Goffin Darren, Allen Megan, Zhang Le, Amorim Maria, Wang I-Ting Judy, Reyes Arith-Ruth S, Mercado-Berton Amy, Ong Caroline, Cohen Sonia, Hu Linda, Blendy Julie A, Carlson Gregory C, Siegel Steve J, Greenberg Michael E, Zhou Zhaolan
Abstract excerpt
Mutations in the MECP2 gene cause the autism spectrum disorder Rett syndrome (RTT). One of the most common MeCP2 mutations associated with RTT occurs at threonine 158, converting it to methionine (T158M) or alanine (T158A). To understand the role of T158 mutations in the pathogenesis of RTT, we generated knockin mice that recapitulate the MeCP2 T158A mutation. We found a causal role for T158A mutation in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.