Rett syndrome: a complex disorder with simple roots

MJ Lyst, A Bird - Nature Reviews Genetics, 2015 - nature.com
MJ Lyst, A Bird
Nature Reviews Genetics, 2015nature.com
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.
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.
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