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    1. Neuroscience

    Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity

    Amy E Pohodich et al.
    Forniceal deep brain stimulation is a promising treatment for several neuropsychiatric disorders as it upregulates synaptic and neurogenesis-associated genes, normalizes genes misregulated in Rett syndrome mice, and regulates genes altered in intellectual disability and major depression.
    1. Neuroscience

    Loss of MeCP2 disrupts cell autonomous and autocrine BDNF signaling in mouse glutamatergic neurons

    Charanya Sampathkumar et al.
    In mouse models of Rett syndrome, the impaired cell autonomous BDNF feed forward signaling pathway results in abnormalities in neurite outgrowth and synapse formation in excitatory neurons.
    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

    Lovastatin fails to improve motor performance and survival in methyl-CpG-binding protein2-null mice

    Claudia Villani et al.
    Lovastatin ability to rescue motor deficits and survival in a mouse model of Rett syndrome is strongly influenced by the genetic background.
    1. Neuroscience

    Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice

    Nathan P Achilly et al.
    The loss of Mecp2 results in cerebellar dysfunction that contributes to the motor deficits in Rett 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

    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

    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

    Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice

    Matthieu Raveau et al.
    CA1 physiology is altered in the hippocampus of Down syndrome mice during both spatial exploration and rest, paralleled by an increase in populations of interneurons responsible for single cell and network synchronization.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation

    Franziska Bleichert et al.
    Electron microscopy uncovers the structure of the origin recognition complex (ORC) in metazoans, and reveals how mutations in the ORC6 subunit lead to Meier-Gorlin syndrome in humans.