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15 results found
    1. Neuroscience
    2. Stem Cells and Regenerative Medicine

    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy

    Dina Simkin et al.
    An inducedpluripotent stem cell (iPSC)-based model of KCNQ2-associated developmental epileptic encephalopathy suggests that disease is driven by dyshomeostaic neuronal mechanisms that are downstream of loss of M-current.
    1. Neuroscience

    Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers

    Özgür Genç et al.
    Forward genetic screens define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission.
    1. Biochemistry and Chemical Biology
    2. Neuroscience

    A model for regulation by SynGAP-α1 of binding of synaptic proteins to PDZ-domain 'Slots' in the postsynaptic density

    Ward G Walkup IV et al.
    The α1 isoform of synGAP restricts the binding of AMPA-receptors and other regulatory proteins to PSD-95, and thus regulates synaptic strength.
    1. Structural Biology and Molecular Biophysics
    2. Cell Biology

    Dynamic clustering of dynamin-amphiphysin helices regulates membrane constriction and fission coupled with GTP hydrolysis

    Tetsuya Takeda et al.
    A new approach using combination of electron microscopy (EM) and high-speed atomic force microscopy (HS-AFM) clearly demonstrates dynamics of dynamin-amphiphysin complexes during membrane constriction and fission suggesting a novel 'clusterase' model of the dynamin-mediated membrane fission.
    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. Neuroscience

    Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

    Wu Chen et al.
    Two genetically distinct Stxbp1 haploinsufficiency mouse models exhibit seizures and impairments in cognitive, psychiatric, and motor functions, representing robust preclinical models of STXBP1 encephalopathy with both construct and face validity.
    1. Neuroscience

    Deletion of KCNQ2/3 potassium channels from PV+ interneurons leads to homeostatic potentiation of excitatory transmission

    Heun Soh et al.
    Loss of potassium channel activity from fast-spiking interneurons increases their excitability leading to unexpectedly increased fast excitatory transmission and seizure susceptibility.
    1. Neuroscience

    A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

    Yishan Sun et al.
    A human cellular model of a prototypical form of intractable childhood epilepsy supports selective impairment of inhibitory neurons as a key pathophysiological mechanism.
    1. Neuroscience

    Seizures are a druggable mechanistic link between TBI and subsequent tauopathy

    Hadeel Alyenbaawi et al.
    A traumatic brain injury model is invented for larval zebrafish and applied to a new fluorescent 'tauopathy reporter fish', revealing a role for seizures in progression towards dementias.
    1. Structural Biology and Molecular Biophysics

    Allosteric regulators selectively prevent Ca2+-feedback of CaV and NaV channels

    Jacqueline Niu et al.
    Two structurally-unrelated regulatory proteins utilize parallel molecular mechanisms to selectively tune calcium and calmodulin feedback of calcium and sodium ion channels and reveals a novel strategy to engineer synthetic channel modulators.

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