62 results found
    1. Neuroscience

    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

    Vincenzo A Gennarino et al.
    Individuals with deletions or duplications of the NUDT21 gene have altered levels of MeCP2 protein and intellectual disabilities.
    1. Neuroscience

    Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

    Laura Dean Heckman et al.
    Transgenic mice with Rett-causing mutations in MeCP2 reveal that a basic cluster in the C-terminus of the protein binds DNA and that both the methyl-CpG binding domain and the transcriptional repression domain are necessary to elicit toxicity in MECP2 duplication syndrome.
    1. Neuroscience

    Developmental loss of MeCP2 from VIP interneurons impairs cortical function and behavior

    James M Mossner et al.
    Loss of function of the Rett syndrome gene MeCP2 in a small but powerful interneuron population, the VIP cells, causes a unique combination of impairments in neural function and behavior.
    1. Neuroscience

    MeCP2 regulates Tet1-catalyzed demethylation, CTCF binding, and learning-dependent alternative splicing of the BDNF gene in Turtle

    Zhaoqing Zheng et al.
    Loss of MeCP2 function negatively impacts Tet1 and CTCF binding thereby negatively impacting learning-dependent DNA methylation and alternative splicing regulation.
    1. Neuroscience

    Microglia contribute to circuit defects in Mecp2 null mice independent of microglia-specific loss of Mecp2 expression

    Dorothy P Schafer et al.
    In mouse models of Rett Syndrome, global loss of the Mecp2 gene induces microglia to engulf excess synapses, while microglia-specific loss or gain of Mecp2 has little impact on disease.
    1. Neuroscience
    2. Structural Biology and Molecular Biophysics

    MeCP2 nuclear dynamics in live neurons results from low and high affinity chromatin interactions

    Francesco M Piccolo et al.
    Single molecular imaging of MeCP2 at high spatial/temporal resolution identifies distinct structural domains contributing to its dynamic behaviors and chromatin interactions in live neurons.
    1. Neuroscience

    MeCP2 in cholinergic interneurons of nucleus accumbens regulates fear learning

    Ying Zhang et al.
    Robust fear learning deficits and decreased tonic activity of NAc cholinergic interneurons caused by depletion of MeCP2 could be attributed to an elevation in α2-containing GABAA receptors.
    1. Neuroscience

    Lack of IL-1R8 in neurons causes hyperactivation of IL-1 receptor pathway and induces MECP2-dependent synaptic defects

    Romana Tomasoni et al.
    Excessive inflammation of the brain in early life predisposes individuals to neurodevelopmental disorders by preventing synapses from developing correctly.
    1. Neuroscience

    Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders

    Xiangling Meng et al.
    Excitatory signaling impairment contributes to neurological deficits shared by Rett syndrome and a number of postnatal neuropsychiatric disorders.
    1. Neuroscience

    Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological defects in mouse models of Rett syndrome

    Mirko Luoni et al.
    Global brain transduction of the instability-prone Mecp2 transgene by systemic AAV-PHP.eB administration is safe and effective in protecting male and female Mecp2 mutant mice from the Rett syndrome disease phenotype.

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