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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...
Autores principales: | 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) |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267879/ https://www.ncbi.nlm.nih.gov/pubmed/22119903 http://dx.doi.org/10.1038/nn.2997 |
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