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
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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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Generation and characterization of rat and mouse monoclonal antibodies specific for MeCP2 and their use in X-inactivation studies. [PDF]
PLoS ONE, 2011 Methyl CpG binding protein 2 (MeCP2) binds DNA, and has a preference for methylated CpGs and, hence, in cells, it accumulates in heterochromatin. Even though it is expressed ubiquitously MeCP2 is particularly important during neuronal maturation. This is
K Laurence Jost +12 more
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Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence. [PDF]
, 2018 To determine the role for mutations of MECP2 in Rett syndrome, we generated isogenic lines of human induced pluripotent stem cells, neural progenitor cells, and neurons from patient fibroblasts with and without MECP2 expression in an attempt to ...
Allen, Denise +17 more
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A role for transcriptional repressor methyl-CpG-binding protein 2 and plasticity-related gene serum- and glucocorticoid-inducible kinase 1 in the induction of inflammatory pain states [PDF]
, 2007 Activity-dependent changes in neurons of the rat superficial dorsal horn are crucial for the induction and maintenance of neuropathic and inflammatory pain states.
Geranton, SM +2 more
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MECP2-Related Disorders in Males [PDF]
International Journal of Molecular Sciences, 2021 Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitous expression. Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affects mainly females.
Pascual-Alonso A +3 more
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Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function. [PDF]
, 2019 Rett syndrome (RTT) is a pervasive developmental disorder caused by mutations in MECP2. Complete loss of MECP2 function in males causes congenital encephalopathy, neurodevelopmental arrest, and early lethality.
Carromeu, Cassiano +9 more
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MeCP2: a novel Huntingtin interactor [PDF]
Human Molecular Genetics, 2013 Transcriptional dysregulation has been proposed to play a major role in the pathology of Huntington's disease (HD). However, the mechanisms that cause selective downregulation of target genes remain unknown. Previous studies have shown that mutant huntingtin (Htt) protein interacts with a number of transcription factors thereby altering transcription ...
McFarland KN +7 more
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Methyl-CpG binding protein 2 (Mecp2) Regulates Sensory Function through Sema5b and Robo2
Frontiers in Cellular Neuroscience, 2015 Mutations in the gene encoding the MECP2 underlies Rett syndrome, a neurodevelopmental disorder in young females. Although reduced pain sensitivity in Rett syndrome patients and in partial MeCP2 deficient mice had been reported, these previous studies ...
Wan Ying eLeong +4 more
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An enhanced CRISPR repressor for targeted mammalian gene regulation. [PDF]
, 2018 The RNA-guided endonuclease Cas9 can be converted into a programmable transcriptional repressor, but inefficiencies in target-gene silencing have limited its utility.
Cecchi, Ryan J +20 more
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