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Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
Neuropsychiatric Disease and Treatment, 2022 Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in the gene Methyl-CpG-binding protein 2 (MECP2), which encodes the MeCP2 protein. RTT is a MECP2-related disorder, along with MECP2 duplication syndrome (MDS), caused by gain-of-function duplications of MECP2.
Bridget E Collins, Jeffrey L Neul
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MECP2 and the biology of MECP2 duplication syndrome [PDF]
Journal of Neurochemistry, 2021 AbstractMECP2 duplication syndrome (MDS), a rare X‐linked genomic disorder affecting predominantly males, is caused by duplication of the chromosomal region containing the methyl CpG binding protein‐2 (MECP2) gene, which encodes methyl‐CpG‐binding protein 2 (MECP2), a multi‐functional protein required for proper brain development and maintenance of ...
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MeCP2 and Chromatin Compartmentalization [PDF]
Cells, 2020 Methyl-CpG binding protein 2 (MeCP2) is a multifunctional epigenetic reader playing a role in transcriptional regulation and chromatin structure, which was linked to Rett syndrome in humans. Here, we focus on its isoforms and functional domains, interactions, modifications and mutations found in Rett patients.
Annika Schmidt +2 more
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MeCP2 Repression Goes Nonglobal [PDF]
Science, 2003 Methylation of CpG islands in gene promoters results in silencing of those genes. Mutation of a methyl-CpG binding domain protein called MeCP2 that contributes to the maintenance of methylation-mediated gene silencing is associated with a severe neurological disease called Rett syndrome.
Klose, Robert, Bird, Adrian P
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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
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Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2 [PDF]
Proceedings of the National Academy of Sciences, 2007 In humans, mutations in the X-linked MECP2 gene, are the cause of Rett syndrome (RTT), a neurodevelopmental disorder that affects mainly girls. MeCP2 binds to methylated CpGs and is thought to act as a transcriptional repressor.
Emanuela, Giacometti +3 more
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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
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Scientific Reports, 2021 Motor skill deficit is a common and invalidating symptom of Rett syndrome (RTT), a rare disease almost exclusively affecting girls during the first/second year of life.
Claudia Villani +4 more
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Reduced axonal diameter of peripheral nerve fibres in a mouse model of Rett syndrome [PDF]
, 2017 Rett syndrome (RTT) is a neurological disorder characterized by motor and cognitive impairment, autonomic dysfunction and a loss of purposeful hand skills.
Bahey, Noha G. +5 more
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Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus [PDF]
, 1996 The methyl-CpG binding domain (MBD) proteins are key molecules in the interpretation of DNA methylation signals leading to gene silencing. We investigated their binding specificity at the constitutively methylated region of a CpG island containing the ...
Auriol, Emilie +3 more
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