Results 1 to 10 of about 15,547 (147)

MECP2 Insufficiency Attenuates RUNX2-Dependent Osteoblast Differentiation via miR-126-3p/DKK1-Mediated Canonical Wnt Signaling Inhibition in Rett Syndrome. [PDF]

FASEB J
MECP2 insufficiency leads to upregulation of miR‐126‐3p, which in turn enhances the endogenous Wnt antagonist DKK1. DKK1 inhibits the canonical Wnt signaling pathway, thereby impairing RUNX2‐dependent osteoblast differentiation. ABSTRACT Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by loss‐of‐function mutations in the gene encoding ...
Dong S, Wang L, Kato H, Hirofuji S, Zhou Z, Ito Y, Hirofuji Y, Sato H, Kato TA, Sakai Y, Ohga S, Fukumoto S, Masuda K.   +12 more
europepmc   +2 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, Ramesh Mariappan, Koushitak De, Takbum Ohn   +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, Alison Williams, Stefanie Ryglewski, Carsten Duch   +3 more
doaj   +1 more source

Genotype-specific effects of Mecp2 loss-of-function on morphology of Layer V pyramidal neurons in heterozygous female Rett Syndrome model mice

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, David P Stuss, David eMcPhee, Kerry R. Delaney   +3 more
doaj   +1 more source

Fluoxetine increases brain MeCP2 immuno-positive cells in a female Mecp2 heterozygous mouse model of Rett syndrome through endogenous serotonin

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, Mirjana Carli, Anna Maria Castaldo, Giuseppina Sacchetti, Roberto William Invernizzi   +4 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, Taraka Donti, Michele Pinelli, Pia Bernardo, Carmela Bravaccio, Sarah H. Elsea, Nicola Brunetti-Pierri   +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
doaj   +1 more source

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, Rafael Tabares-Seisdedos, Jose M Moraleda, Salvador Martinez   +3 more
doaj   +1 more source

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, Andrea Rottach, Manuela Milden, Bianca Bertulat, Annette Becker, Patricia Wolf, Juan Sandoval, Paolo Petazzi, Dori Huertas, Manel Esteller, Elisabeth Kremmer, Heinrich Leonhardt, M Cristina Cardoso   +12 more
doaj   +1 more source