Results 31 to 40 of about 27,643 (268)
MeCP2: The Genetic Driver of Rett Syndrome Epigenetics
Frontiers in Genetics, 2021 Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome (RTT), a rare neurodevelopmental disorder with a notable period of developmental regression following apparently normal initial development.
Katrina V. Good, J. Vincent, J. Ausió
semanticscholar +1 more source
Loss of MeCP2 causes subtle alteration in dendritic arborization of retinal ganglion cells
Animal Cells and Systems, 2021 Methyl-CpG-binding protein (MeCP2) is highly expressed in neurons. It plays an important role in the development of synapses and the formation of circuits in the central nervous system (CNS).
Wooje Lee +3 more
doaj +1 more source
Fenfluramine in Rett syndrome: A multidimensional clinical study. [PDF]
Epilepsia OpenAbstract Objective Rett syndrome (RTT) is a severe neurodevelopmental disorder frequently associated with drug‐resistant epilepsy, autonomic dysfunction, respiratory abnormalities, sleep disturbances, and behavioral impairment. Fenfluramine has shown efficacy in developmental and epileptic encephalopathies and may provide broader therapeutic benefits ...
Gonzalez-Alguacil E +11 more
europepmc +2 more sources
NeuroMolecular Medicine, 2014 Rett syndrome (RTT) is a severe and progressive neurological disorder, which mainly affects young females. Mutations of the methyl-CpG binding protein 2 (MECP2) gene are the most prevalent cause of classical RTT cases. MECP2 mutations or altered expression are also associated with a spectrum of neurodevelopmental disorders such as autism spectrum ...
Vichithra R B, Liyanage +1 more
openaire +2 more sources
Theranostics, 2022 Rationale: Ischemia-reperfusion (IR) induced acute kidney injury (AKI) causes serious clinical problems associated with high morbidity and mortality. Mecp2 is a methyl-CpG binding protein, its mutation or deletion causes a neurodevelopment disease called
Jiao Wang +16 more
semanticscholar +1 more source
Sustained effects of rapidly-acting antidepressants require BDNF-dependent MeCP2 phosphorylation
Nature Neuroscience, 2021 The rapidly acting antidepressants ketamine and scopolamine exert behavioral effects that can last from several days to more than a week in some patients.
Ji-Woon Kim +6 more
semanticscholar +1 more source
Frontiers in Cellular Neuroscience, 2015 Rett Syndrome (RTT) is a progressive neurological disorder primarily caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). The heterozygous female brain consists of mosaic of neurons containing both wildtype MeCP2 (MeCP2+) and ...
Leslie eRietveld +3 more
doaj +1 more source
Sphingolipid Metabolism Perturbations in Rett Syndrome
Metabolites, 2019 Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2.
Gerarda Cappuccio +6 more
doaj +1 more source
Risk Factors for Late Diagnosis of Rett Syndrome
Pediatric Neurology Briefs, 2015 Investigators at Emory University, Atlanta, GA; Stony Brook, New York; University of California, San Diego; and other centers determined the type of physician who makes the Rett syndrome (RTT) diagnosis and identified risk factors for delayed diagnosis.
J Gordon Millichap
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Drosophila as a model for MECP2 gain of function in neurons. [PDF]
PLoS ONE, 2012 Methyl-CpG-binding protein 2 (MECP2) is a multi-functional regulator of gene expression. In humans loss of MECP2 function causes classic Rett syndrome, but gain of MECP2 function also causes mental retardation.
Fernando Vonhoff +3 more
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