133 results found
    1. Neuroscience

    Vasoactive intestinal peptide-expressing interneurons are impaired in a mouse model of Dravet syndrome

    Kevin M Goff, Ethan M Goldberg
    Vasoactive intestinal peptide-expressing GABAergic interneurons in cerebral cortex express the sodium channel subunit Nav1.1, and a defined subset of VIP interneurons are dysfunctional in a mouse model of Dravet syndrome.
    1. Genetics and Genomics
    2. Neuroscience

    Gain-of-function mutations in the UNC-2/CaV2α channel lead to excitation-dominant synaptic transmission in Caenorhabditis elegans

    Yung-Chi Huang et al.
    Caenorhabditis elegans studies indicate that gain-of-function mutations in the presynaptic voltage-gated calcium, associated with familial hemiplegic migraine in humans, result in excitatory-inhibitory imbalance in the nervous system.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al.
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
    1. Neuroscience

    Targeting light-gated chloride channels to neuronal somatodendritic domain reduces their excitatory effect in the axon

    Jessica E Messier et al.
    A high axonal chloride concentration explains why activation of light-gated chloride channels causes neurotransmitter release, and a novel hybrid somatodendritic targeting motif ameliorates this phenomenon and improves their inhibitory function.
    1. Neuroscience

    Activity-dependent regulation of T-type calcium channels by submembrane calcium ions

    Magali Cazade et al.
    The feedback inhibition of T-type calcium channels by intracellular calcium provides new avenues to better decipher the roles of these low-voltage-activated channels in the fine control of calcium signaling events in physiology and pathophysiology.
    1. Neuroscience

    Homeostatic synaptic depression is achieved through a regulated decrease in presynaptic calcium channel abundance

    Michael A Gaviño et al.
    Experiments at synapses between nerve and muscle cells in genetically modified fruit flies reveal how neurons compensate for perturbations that would otherwise cause excessive synaptic transmission.
    1. Structural Biology and Molecular Biophysics
    2. Neuroscience

    Ca2+ entry into neurons is facilitated by cooperative gating of clustered CaV1.3 channels

    Claudia M Moreno et al.
    CaV1.3 channels of the short isoform are coupled via their C-terminal domains in a Ca2+-CaM-dependent manner, which facilitates Ca2+ influx and increases the discharge of hippocampal neurons.
    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. Structural Biology and Molecular Biophysics
    2. Neuroscience

    A novel region in the CaV2.1 α1 subunit C-terminus regulates fast synaptic vesicle fusion and vesicle docking at the mammalian presynaptic active zone

    Matthias Lübbert et al.
    A novel region in the CaV2.1 α1 subunit regulates coupling of synaptic vesicles to CaV2.1 calcium channels, synaptic vesicle release and docking, and the size of the fast and total releasable pools of synaptic vesicles.
    1. Neuroscience

    Alzheimer’s Disease: Identifying faulty brain circuits

    Jesse E Hanson
    A protein called NPTX2 may be a useful marker of neural circuit defects in patients with Alzheimer's disease.
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