Article
Radically truncated MeCP2 rescues Rett syndrome-like neurological defects.
Nature - 19 Oct 2017
Tillotson Rebekah, Selfridge Jim, Koerner Martha V, Gadalla Kamal K E, Guy Jacky, De Sousa Dina, Hector Ralph D, Cobb Stuart R, Bird Adrian
Abstract excerpt
Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine. Functionally, MeCP2 has been implicated in several cellular processes on the basis of its reported interaction with more than 40 binding partners, including transcriptional...
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