MeCP2 modulates gene expression pathways in astrocytes [PDF]
Molecular Autism, 2013 Background Mutations in MECP2 encoding methyl-CpG-binding protein 2 (MeCP2) cause the X-linked neurodevelopmental disorder Rett syndrome. Rett syndrome patients exhibit neurological symptoms that include irregular breathing, impaired mobility ...
Yasui Dag H +5 more
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Genetic modifiers of MeCP2 function in Drosophila.
PLoS Genetics, 2008 The levels of methyl-CpG-binding protein 2 (MeCP2) are critical for normal post-natal development and function of the nervous system. Loss of function of MeCP2, a transcriptional regulator involved in chromatin remodeling, causes classic Rett syndrome ...
Holly N Cukier +5 more
doaj +2 more sources
Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice [PDF]
CellsMethyl CpG-binding protein 2 (MeCP2) is an epigenetic reader of DNA methylation with high abundance in the brain. While genetic mutations occur across different protein domains of MeCP2, the T158M mutation is amongst the most frequent MeCP2 mutations ...
Chris-Tiann Roberts +11 more
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Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands. [PDF]
PLoS ONE, 2016 Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data.
Carlos Bueno +3 more
doaj +6 more sources
Ethanol Alters DNMT1/3a/3b Expression Profile, Promotes Persistent DNA Hypomethylation in Human Brain Endothelial Cells and Impairs Late Cortical Angiogenesis. [PDF]
J NeurochemEthanol exposure alters brain endothelial cell function and blood–brain barrier integrity. In human brain microcapillary endothelial cells (HBMEC) and mouse brain endothelial cells (MBEC) from a prenatal alcohol exposure (PAE) model, ethanol increased DNA methyltransferas‐1 (DNMT1) activity and reduced DNA methylation, affecting DNMT3a/3b, methyl‐CpG ...
Siqueira M +6 more
europepmc +2 more sources
Pediatric intestinal pseudo‐obstruction found in 3‐year‐old male with Rett‐related mutation of methyl‐CpG binding protein 2 [PDF]
JPGN RepAbstract A 3‐year‐old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo‐obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam.
Tran A, Patel‐Sanchez N.
europepmc +2 more sources
The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study. [PDF]
, 2015 The establishment and maintenance of neuronal circuits depends on tight regulation of synaptic contacts. We hypothesized that CNTNAP2, a protein associated with autism, would play a key role in this process.
Gdalyahu, Amos +5 more
core +14 more sources
The Molecular Functions of MeCP2 in Rett Syndrome Pathology
Frontiers in Genetics, 2021 MeCP2 protein, encoded by the MECP2 gene, binds to DNA and affects transcription. Outside of this activity the true range of MeCP2 function is still not entirely clear.
Osman Sharifi, Dag H. Yasui
doaj +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
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
doaj +1 more source