34 results found
    1. Neuroscience

    NHE6 depletion corrects ApoE4-mediated synaptic impairments and reduces amyloid plaque load

    Theresa Pohlkamp et al.
    Genetic disruption of sodium-hydrogen exchanger 6 (NHE6) reduces amyloid plaques in humanized Alzheimer's disease mouse models and restores normal synaptic responses to neuromodulatory input in humanized ApoE4-expressing animals.
    1. Cell Biology
    2. Developmental Biology

    Augmin deficiency in neural stem cells causes p53-dependent apoptosis and aborts brain development

    Ricardo Viais et al.
    Non-centrosomal microtubule nucleation mediated by augmin is essential for neural progenitor mitosis and survival, and thus brain development.
    1. Biochemistry and Chemical Biology
    2. Chromosomes and Gene Expression

    In vivo analysis reveals that ATP-hydrolysis couples remodeling to SWI/SNF release from chromatin

    Ben C Tilly et al.
    Visualization of BRM remodelers engaging their endogenous genomic targets revealed highly transient and dynamic interactions with chromatin, which are fueled by ATP-hydrolysis.
    1. Neuroscience
    2. Stem Cells and Regenerative Medicine

    AAV ablates neurogenesis in the adult murine hippocampus

    Stephen Johnston et al.
    Future work using recombinant AAV as an experimental tool in the dentate gyrus or as a gene therapy for diseases of the central nervous system should be carefully evaluated.
    1. Genetics and Genomics
    2. Medicine

    EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

    Jeremie Gautheron et al.
    Disruption of epoxide hydrolysis inducing oxidative stress and cellular senescence is a novel mechanism responsible for lipoatrophic monogenic diabetes.
    1. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek et al.
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.
    1. Cell Biology

    Polo-like kinase acts as a molecular timer that safeguards the asymmetric fate of spindle microtubule-organizing centers

    Laura Matellán et al.
    Molecular and cell biology analyses reveal novel roles of Polo-like kinases in establishing non-random segregation patterns of spindle-associated microtubule-organizing centers during mitosis, a phenomenon linked with replicative cell aging.
    1. Developmental Biology

    Gli3 utilizes Hand2 to synergistically regulate tissue-specific transcriptional networks

    Kelsey H Elliott et al.
    Context-dependent optimization of Gli-binding site occupancy, in the presence of Hand2, is critical for modulating tissue-specific transcriptional output within tissues that lack an obvious Hedgehog morphogen gradient.
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    New insights into the mechanism of dynein motor regulation by lissencephaly-1

    Steven M Markus et al.
    The role of LIS1 in dynein-mediated transport in various biological contexts is reviewed with a focus on recent studies that revealed a new mechanism by which LIS1 functions.
    1. Neuroscience

    SynGAP isoforms differentially regulate synaptic plasticity and dendritic development

    Yoichi Araki et al.
    Detailed SYNGAP1 splice variant characterization uncovers distinct isoform functions and biochemical properties contributing to critical aspects of neurodevelopment, providing previously unknown isoform-level insight into SYNGAP1-related cognitive disorders.

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