| Literature DB >> 25732612 |
Matthew J Lyst1, Adrian Bird1.
Abstract
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2). Two decades of research have fostered the view that MeCP2 is a multifunctional chromatin protein that integrates diverse aspects of neuronal biology. More recently, studies have focused on specific RTT-associated mutations within the protein. This work has yielded molecular insights into the critical functions of MeCP2 that promise to simplify our understanding of RTT pathology.Entities:
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Year: 2015 PMID: 25732612 DOI: 10.1038/nrg3897
Source DB: PubMed Journal: Nat Rev Genet ISSN: 1471-0056 Impact factor: 53.242