Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental disorders including cognitive disorders, autism, juvenile-onset schizophrenia and encephalopathy with early lethality. Rett syndr...

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Veröffentlicht in:	Nature (London) 2010-11, Vol.468 (7321), p.263-269
Hauptverfasser:	Chao, Hsiao-Tuan, Chen, Hongmei, Samaco, Rodney C., Xue, Mingshan, Chahrour, Maria, Yoo, Jong, Neul, Jeffrey L., Gong, Shiaoching, Lu, Hui-Chen, Heintz, Nathaniel, Ekker, Marc, Rubenstein, John L. R., Noebels, Jeffrey L., Rosenmund, Christian, Zoghbi, Huda Y.
Format:	Artikel
Sprache:	eng
Schlagworte:	631/378/548 631/601/18 692/699/375/366 Adult and adolescent clinical studies Animals Anxiety Autism Autistic Disorder - complications Autistic Disorder - genetics Autistic Disorder - pathology Autistic Disorder - physiopathology Behavior Biological and medical sciences Bipolar disorder Brain - cytology Care and treatment Cognition disorders Compulsive Behavior - complications Compulsive Behavior - genetics Compulsive Behavior - physiopathology Diagnosis Disease Models, Animal Electroencephalography Fundamental and applied biological sciences. Psychology GABA gamma-Aminobutyric Acid - metabolism Gene expression Genetic aspects Genotype Glutamate Decarboxylase - metabolism Health aspects Hippocampus - pathology Hippocampus - physiopathology Homeodomain Proteins - genetics Humanities and Social Sciences Inhibitory Postsynaptic Potentials Long-Term Potentiation Male Medical sciences Mental disorders Methyl-CpG-Binding Protein 2 - deficiency Methyl-CpG-Binding Protein 2 - genetics Methyl-CpG-Binding Protein 2 - metabolism Mice Mice, Transgenic multidisciplinary Neural Inhibition Neuronal Plasticity Neurons Neurons - metabolism Phenotype Presynaptic Terminals - metabolism Psychology. Psychoanalysis. Psychiatry Psychomotor Disorders - complications Psychomotor Disorders - genetics Psychomotor Disorders - physiopathology Psychopathology. Psychiatry Psychoses Reflex, Startle - genetics Respiration Rett syndrome Rett Syndrome - complications Rett Syndrome - genetics Rett Syndrome - pathology Rett Syndrome - physiopathology Rodents Schizophrenia Science Science (multidisciplinary) Seizures (Medicine) Self-Injurious Behavior - complications Self-Injurious Behavior - genetics Self-Injurious Behavior - physiopathology Signal Transduction Social interaction Stereotypic Movement Disorder - complications Stereotypic Movement Disorder - genetics Stereotypic Movement Disorder - pathology Stereotypic Movement Disorder - physiopathology Studies Survival Rate Synaptic Transmission Vertebrates: nervous system and sense organs Vesicular Inhibitory Amino Acid Transport Proteins - genetics
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