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    1. Neuroscience

    Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome

    Kerstin Ure et al.
    Genetically restoring Mecp2 expression only in GABAergic neurons in a mouse model of Rett syndrome improves inhibitory signaling, extends lifespan and rescues most but not all behavioral deficits.
    1. Chromosomes and Gene Expression
    2. Neuroscience

    Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome

    Laura A Lavery et al.
    Dnmt3a regulates gene expression in inhibitory neurons by writing all mCH and some mCG, and MeCP2 reads some of these mCH sites driving a portion of these gene expression changes.
    1. Neuroscience

    Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndrome

    Irene Bolea et al.
    Glutamatergic brainstem neurons drive motor and respiratory deficits, and GABAergic basal ganglia neurons cause hypothermia and fatal epileptic events, in a model of mitochondrial disease.
    1. Chromosomes and Gene Expression

    Trisomy 21 consistently activates the interferon response

    Kelly D Sullivan et al.
    Hyperactive interferon signaling is a hallmark of trisomy 21 and may contribute to many of the comorbidities associated with Down syndrome.
    1. Neuroscience

    Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat

    Hala Harony-Nicolas et al.
    The production, validation and study of a novel rat model for Phelan McDermid Syndrome shows an ameliorative effect of oxytocin on both social and attentional deficits.
    1. Developmental Biology
    2. Medicine

    CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations

    Hironobu Okuno et al.
    Neural crest cells differentiated from patient-derived cells with mutations in the chromatin remodeler CHD7 show defective delamination, migration and motility in vitro, and defective migration in chick embryos.
    1. Chromosomes and Gene Expression
    2. Computational and Systems Biology

    Increased longevity due to sexual activity in mole-rats is associated with transcriptional changes in the HPA stress axis

    Arne Sahm et al.
    The fact that sexual activity/reproduction doubles the lifespan of certain rodent species is most likely linked to critical changes in the regulation of the hypothalamic–pituitary–adrenal stress axis.
    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. Genetics and Genomics
    2. Medicine

    Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

    Jeanne L Theis et al.
    Hypoplastic left heart syndrome is reflected by reduced proliferative capacity of patient iPSC-derived cardiomyocytes and requires the activity of LRP2/APOB proteins, likely in conjunction with SHH and WNT signaling pathways.
    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.