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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Brain / pathology
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Brain / physiopathology
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DNA / chemistry
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DNA / metabolism
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Disease Models, Animal
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Gene Expression Regulation
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Humans
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Methyl-CpG-Binding Protein 2 / genetics
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Methyl-CpG-Binding Protein 2 / physiology
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Mice
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Mice, Knockout
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Models, Neurological
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Mutation
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Neurons / pathology
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Neurons / physiology
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Protein Binding
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Rett Syndrome / genetics*
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Rett Syndrome / pathology
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Rett Syndrome / physiopathology
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Trans-Activators / genetics
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Trans-Activators / physiology
Substances
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MECP2 protein, human
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Mecp2 protein, mouse
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Methyl-CpG-Binding Protein 2
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Trans-Activators
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DNA