title: MeCP2 mutations: progress towards understanding and treating Rett syndrome.
abstract: Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.
authors.affiliation: Wellcome Trust Centre for Cell Biology, University of Edinburgh, Max Born Crescent, Edinburgh, EH16 5DS, UK.
authors.forename: Ruth R
authors.initials: RR
authors.lastname: Shah
authors.affiliation: Wellcome Trust Centre for Cell Biology, University of Edinburgh, Max Born Crescent, Edinburgh, EH16 5DS, UK. a.bird@ed.ac.uk.
authors.forename: Adrian P
authors.initials: AP
authors.lastname: Bird
mesh_terms: D001921:Brain / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D015518:Rett Syndrome / Q000378:metabolism* / Q000628:therapy
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2