Article
Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.
PloS one - 1 Jan 2016
Williams Alison A, Mehler Vera J, Mueller Christina, Vonhoff Fernando, White Robin, Duch Carsten
Abstract excerpt
Methyl-CpG binding protein 2 (MeCP2) is a widely abundant, multifunctional protein most highly expressed in post-mitotic neurons. Mutations causing Rett syndrome and related neurodevelopmental disorders have been identified along the entire MECP2 locus, but symptoms vary depending on mutation type and location. C-terminal mutations are prevalent, but little is known about the function of the MeCP2 C-terminus. We...
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