Results 81 to 90 of about 27,643 (268)
Extending MeCP2 interactome: canonical nucleosomal histones interact with MeCP2
Nucleic Acids ResearchAbstract MeCP2 is a general regulator of transcription involved in the repression/activation of genes depending on the local epigenetic context. It acts as a chromatin regulator and binds with exquisite specificity to gene promoters.
David Ortega-Alarcon +8 more
openaire +6 more sources
The role of MeCP2 in learning and memory [PDF]
Learning & Memory, 2019 Gene transcription is a crucial step in the sequence of molecular, synaptic, cellular, and systems mechanisms underlying learning and memory. Here, we review the experimental evidence demonstrating that alterations in the levels and functionality of the methylated DNA-binding transcriptional regulator MeCP2 are implicated in the learning and memory ...
Robinson, Holly A., Pozzo-Miller, Lucas
openaire +2 more sources
Aging Cell, 2021 Age‐related cognitive decline in neurodegenerative diseases, such as Alzheimer's disease (AD), is associated with the deficits of synaptic plasticity. Therefore, exploring promising targets to enhance synaptic plasticity in neurodegenerative disorders is
Jin-Lan Huang +10 more
semanticscholar +1 more source
Systematic Review of Females With Intellectual Disability and MECP2 Duplication
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik +10 more
wiley +1 more source
Imaging the binding of MECP2 to DNA
Genes & Development, 2023 Mutations in the methyl-DNA binding domain of MECP2 cause Rett syndrome; however, distinct mutations are associated with different severity of the disease. Live-cell imaging and single-molecule tracking are sensitive methods to quantify the DNA binding affinity and diffusion dynamics of nuclear proteins.
openaire +2 more sources
Mild expression differences of MECP2 influencing aggressive social behavior
EMBO Molecular Medicine, 2014 The X‐chromosomal MECP2/Mecp2 gene encodes methyl‐CpG‐binding protein 2, a transcriptional activator and repressor regulating many other genes. We discovered in male FVB/N mice that mild (~50%) transgenic overexpression of Mecp2 enhances aggression ...
Martesa Tantra +17 more
doaj +1 more source
EMBO Molecular Medicine, 2020 Duplication or deficiency of the X‐linked MECP2 gene reliably produces profound neurodevelopmental impairment. MECP2 mutations are almost universally responsible for Rett syndrome (RTT), and particular mutations and cellular mosaicism of MECP2 may ...
C. A. Trujillo +14 more
semanticscholar +1 more source
Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models
Nature Communications, 2021 Rett syndrome (RTT) is a severe neurological disorder and a leading cause of intellectual disability in young females. RTT is mainly caused by mutations found in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2).
Yan Jiang +13 more
semanticscholar +1 more source
Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy. [PDF]
PLoS ONE, 2009 BACKGROUND:Rett Syndrome (RTT) is an Autism Spectrum Disorder and the leading cause of mental retardation in females. RTT is caused by mutations in the Methyl CpG-Binding Protein-2 (MECP2) gene and has no treatment.
Mojgan Rastegar +11 more
doaj +1 more source