8 results found
    1. Neuroscience
    2. Structural Biology and Molecular Biophysics

    Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms

    Siyuan Zhao et al.
    Disease-associated mutants of the TRPM3 ion channel are overactive, and they are inhibited by the antiepileptic medication primidone, offering a potential therapeutic intervention to treat this channelopathy.
    1. Neuroscience

    Dual separable feedback systems govern firing rate homeostasis

    Yelena Kulik et al.
    A new mechanistic framework for considering the homeostatic control of neuronal firing rates is presented.
    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

    Hypoexcitability precedes denervation in the large fast-contracting motor units in two unrelated mouse models of ALS

    María de Lourdes Martínez-Silva et al.
    The most vulnerable motor units lose a fundamental firing property before the denervation of their muscle fibers in ALS mice, changing our view of the role of excitability in neurodegeneration.
    1. Neuroscience

    Voltage-gated Na+ currents in human dorsal root ganglion neurons

    Xiulin Zhang et al.
    Human sensory neurons may not only bridge a critical gap between drug discovery and clinical trials, but force a re-evaluation of basic assumptions about the mechanisms controlling primary afferent excitability.
    1. Structural Biology and Molecular Biophysics

    Patient-specific mutations impair BESTROPHIN1’s essential role in mediating Ca2+-dependent Cl- currents in human RPE

    Yao Li et al.
    A multidisciplinary platform featured by patient-derived RPEs is established to study the disease-causing mechanisms of BEST1 mutations, and demonstrates gene-supplemented rescue of the mutation-caused deficiency in Ca2+-dependent Cl- current in human RPE.
    1. Cell Biology
    2. Developmental Biology

    Caenorhabditis elegans PIEZO channel coordinates multiple reproductive tissues to govern ovulation

    Xiaofei Bai et al.
    Depletion of the mechanosensitive ion channel PEZO-1 in C. elegans disrupts the sheath and spermathecae cells to disrupt oocyte ovulation, resulting in crushed oocytes.
    1. Genetics and Genomics

    An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

    Jun Zou et al.
    The newly discovered Titin internal promoter may explain why the severity of dilated cardiomyopathy in patients with truncating mutations in Titin varies dramatically depending on position of the mutation.

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