1,457 results found
    1. Neuroscience

    TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

    Sunetra Sase et al.
    H-ABC leukodystrophy results in neurologic decline, hypomyelination and atrophy of the striatum and cerebellum and Tubb4aD249N/D249Nmouse model recapitulates features of H-ABC disease, providing an important tool for therapeutic development.
    1. Neuroscience

    Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia

    Vijayendran Chandran et al.
    Restoration of endogenous frataxin levels reverses neurologic and cardiac phenotypes associated with Friedreich's ataxia in adult mice even after significant motor dysfunction.
    1. Neuroscience

    Analysis of SUMO1-conjugation at synapses

    James A Daniel et al.
    Analyses using His6-HA-SUMO1 and SUMO1 KO mice indicate that SUMO1 modification of synaptic proteins is either absent or cannot be detected in brain and cultured neurons.
    1. Neuroscience

    Fibrillar Aβ triggers microglial proteome alterations and dysfunction in Alzheimer mouse models

    Laura Sebastian Monasor et al.
    APPPS1 microglia express disease-associated proteomic signatures of Alzheimer's disease earlier, compared to the APP-KI, and these differences correlate with the levels of fibrillar Aβ and impaired microglial phagocytic function.
    1. Neuroscience

    Acute disruption of the synaptic vesicle membrane protein synaptotagmin 1 using knockoff in mouse hippocampal neurons

    Jason D Vevea, Edwin R Chapman
    Knockoff is a tool for researchers who wish to acutely disrupt a membrane protein.
    1. Neuroscience

    A dual role for Cav1.4 Ca2+ channels in the molecular and structural organization of the rod photoreceptor synapse

    J Wesley Maddox et al.
    Ca2+ influx through Cav1.4 channels is required for the structural, but not the molecular organization of the rod photoreceptor synapse.
    1. Chromosomes and Gene Expression
    2. Neuroscience

    Initial elevations in glutamate and dopamine neurotransmission decline with age, as does exploratory behavior, in LRRK2 G2019S knock-in mice

    Mattia Volta et al.
    LRRK2 G2019S knock-in mice are a genetically faithful model that recapitulates the slow disease progression of familial PD, with initial alterations to behaviour and neurotransmission providing early pathophysiological targets for neuroprotective interventions.
    1. Neuroscience

    Spontaneous activation of visual pigments in relation to openness/closedness of chromophore-binding pocket

    Wendy Wing Sze Yue et al.
    Visual pigments with a longer peak-absorption wavelength or an open chromophore-binding pocket are generally noisier, being more prone to spontaneous activity.
    1. Neuroscience

    Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

    Achira Roy et al.
    Acute one-hour treatment of Pik3ca mutant mice with a novel anti-epilepsy drug suppresses seizures despite continued developmental brain dysmorphology, promising a new therapeutic strategy for patients with intractable pediatric epilepsy.
    1. Cell Biology

    Splicing variation of BMP2K balances abundance of COPII assemblies and autophagic degradation in erythroid cells

    Jaroslaw Cendrowski et al.
    Erythroid-enriched BMP2K kinase, in addition to its predicted function in endocytosis, regulates distribution and abundance of COPII assemblies and autophagic degradation through opposing actions of its two splicing variants.

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