Article
Functional consequences of Rett syndrome mutations on human MeCP2.
Nucleic acids research - 1 Nov 2000
Yusufzai T M, Wolffe A P
Abstract excerpt
The neurodevelopmental disorder known as Rett syndrome has recently been linked to the methyl-CpG-binding transcriptional repressor, MeCP2. In this report we examine the consequences of these mutations on the function of MeCP2. The ability to bind specifically to methylated DNA and the transcription repression capabilities are tested, as well as the stability of proteins in vivo. We find that all missense...
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