51 results found
    1. Genetics and Genomics
    2. Neuroscience

    Translational control of polyamine metabolism by CNBP is required for Drosophila locomotor function

    Sonia Coni et al.
    A decrease of the type 2 myotonic dystrophy gene product CNBP causes an impairment of polyamine metabolism and locomotor dysfunction that can be reverted with polyamine supplementation.
    1. Stem Cells and Regenerative Medicine

    Deep learning detects cardiotoxicity in a high-content screen with induced pluripotent stem cell-derived cardiomyocytes

    Francis Grafton et al.
    Deep learning combined with induced pluripotent stem cell technology is an effective method to interrogate cellular phenotypes and predict patterns of cardiotoxicity in vitro.
    1. Neuroscience

    A transient postnatal quiescent period precedes emergence of mature cortical dynamics

    Soledad Domínguez et al.
    Maturation of cortical network dynamics is characterized by a nadir that signals the shift from local, loosely correlated, prominently sensory-driven patterns to internally organized, spatially distributed, and temporally precise activity.
    1. Medicine
    2. Neuroscience

    Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

    Shai Kellner et al.
    Two novel mutations in the GRIN2B gene reduce glutamate affinity by >1000-fold, reduce the receptors proton-sensitivity, and exert a dominant-negative effect over receptors in neurons.
    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.

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