47 results found
    1. Genetics and Genomics
    2. Neuroscience

    Propensity for somatic expansion increases over the course of life in Huntington disease

    Radhia Kacher et al.
    Somatic instability of the CAG repeat increases progressively with age and disease progression in Huntington disease mutation carriers, starting with low levels in fetal brain tissues.
    1. Medicine
    2. Neuroscience

    The mechanism underlying transient weakness in myotonia congenita

    Jessica H Myers et al.
    Transient weakness in myotonia congenita is caused by depolarization secondary to activation of persistent Na+ current in skeletal muscle.
    1. Immunology and Inflammation
    2. Neuroscience

    Enhancing mitochondrial activity in neurons protects against neurodegeneration in a mouse model of multiple sclerosis

    Sina C Rosenkranz et al.
    Inducing neuronal mitochondrial activity during central nervous system inflammation counteracts inflammation-induced neuronal electron transport chain deficiency and calcium toxicity, thereby protecting against neuronal loss in a multiple sclerosis mouse model.
    1. Neuroscience

    Prenatal methadone exposure disrupts behavioral development and alters motor neuron intrinsic properties and local circuitry

    Gregory G Grecco et al.
    A novel, translational mouse model of prenatal methadone exposure was developed and a longitudinal assessment of offspring revealed impairments in physical, behavioral, and neuronal development.
    1. Neuroscience

    Hippocampal low-frequency stimulation prevents seizure generation in a mouse model of mesial temporal lobe epilepsy

    Enya Paschen et al.
    Optogenetic and electrical low-frequency stimulation in the sclerotic hippocampus prevents the emergence of spontaneous focal and evoked generalized seizures in a mouse epilepsy model.
    1. Genetics and Genomics
    2. Neuroscience

    Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

    Marina Kovalenko et al.
    Genetic knockout of Hdac2 modifies molecular and cellular phenotypes in Huntington’s disease mice and has a prominent transcriptional regulatory role in adult medium spiny neurons.
    1. Chromosomes and Gene Expression

    Identification of protein-protected mRNA fragments and structured excised intron RNAs in human plasma by TGIRT-seq peak calling

    Jun Yao et al.
    Human plasma contains protein-protected mRNA fragments, myriad repeat RNAs, and novel intron RNAs, including a family of structured full-length excised introns, some corresponding to mirtron pre-miRNAs and agotrons.
    1. Developmental Biology
    2. Neuroscience

    Alternative splicing at neuroligin site A regulates glycan interaction and synaptogenic activity

    Shinichiro Oku et al.
    Inclusion of a neuroligin alternatively spliced insert that interacts with a neurexin glycan modification promote development of functional synaptic connections between neurons and may help alleviate consequences of NLGN mutations.
    1. Computational and Systems Biology
    2. Neuroscience

    A taxonomy of seizure dynamotypes

    Maria Luisa Saggio et al.
    Taxonomy of seizure dynamics (TSD) provides a rigorous method for classifying and quantifying seizures and a principled framework for understanding seizure initiation and propagation.
    1. Developmental Biology

    Piezo1/2 mediate mechanotransduction essential for bone formation through concerted activation of NFAT-YAP1-ß-catenin

    Taifeng Zhou et al.
    Mechanosensitive channels Piezo1/2 are required for osteoblast differentiation from progenitors by sensing fluid sheer stress and matrix rigidity and regulating NFATc1, YAP1 and ß-catenin activities through Ca2+ stimulated phosphatase calcineurin.

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