Rett Syndrome Mutation MeCP2 T158A Disrupts DNA Binding, Protein Stability and ERP Responses

Mutations in the MECP2 gene cause the autism spectrum disorder Rett Syndrome (RTT). One of the most common mutations associated with RTT occurs at MeCP2 Threonine 158 converting it to Methionine (T158M) or Alanine (T158A). To understand the role of T158 mutation in the pathogenesis of RTT, we genera...

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Main Authors: 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 (Joe)
Format: Artigo
Sprog:Inglês
Udgivet: 2011
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3267879/
https://ncbi.nlm.nih.gov/pubmed/22119903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nn.2997
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