Ontology highlight
ABSTRACT:
SUBMITTER: Goffin D
PROVIDER: S-EPMC3267879 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Nature neuroscience 20111127 2
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 development of RTT-like phenotypes, including developmental regression, motor dysfunctio ...[more]