Rett syndrome: a complex disorder with simple roots.
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.
The Wellcome Trust Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Max Born Crescent, The King's Buildings, Edinburgh EH9 3BF, UK.
Matthew J
MJ
Lyst
The Wellcome Trust Centre for Cell Biology, University of Edinburgh, Michael Swann Building, Max Born Crescent, The King's Buildings, Edinburgh EH9 3BF, UK.
Adrian
A
Bird
D000818:Animals; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D004247:DNA / Q000737:chemistry / Q000378:metabolism; D004195:Disease Models, Animal; D005786:Gene Expression Regulation; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics / Q000502:physiology; D051379:Mice; D018345:Mice, Knockout; D008959:Models, Neurological; D009154:Mutation; D009474:Neurons / Q000473:pathology / Q000502:physiology; D011485:Protein Binding; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D015534:Trans-Activators / Q000235:genetics / Q000502:physiology
C497392:MECP2 protein, human; C497393:Mecp2 protein, mouse; D051783:Methyl-CpG-Binding Protein 2; D015534:Trans-Activators; D004247:DNA