16 results found
    1. Neuroscience

    Acute cerebellar knockdown of Sgce reproduces salient features of myoclonus-dystonia (DYT11) in mice

    Samantha Washburn et al.
    Acute knock down of Sgce that is mutated in Myoclonus Dystonia (DYT11), in the cerebellum of mice, leads to dystonia and myoclonus-like motor signs that like patients improve with alcohol.
    1. Neuroscience

    A role for cerebellum in the hereditary dystonia DYT1

    Rachel Fremont et al.
    The most common inherited dystonia, DYT1, is likely caused primarily by the dysfunction of the cerebellum rather than the basal ganglia.
    1. Neuroscience

    Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum

    Marta Maltese et al.
    Structural and functional striatal synaptic plasticity abnormalities occur early in a sensitive developmental period, representing a potential unique endophenotypic traits that increase the risk of manifesting clinical symptoms in DYT1 mutation carriers.
    1. Developmental Biology
    2. Neuroscience

    TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

    Jay Li et al.
    Enhancing levels of the torsinA paralog torsinB prevents essentially all torsinA loss-of-function neuropathological and behavioral phenotypes, identifying torsinB as a novel therapeutic target for DYT1 dystonia.
    1. Neuroscience

    DYT1 dystonia increases risk taking in humans

    David Arkadir et al.
    Patients with DYT1 dystonia show aberrant risk-aversion in a simple decision-making task, in accordance with predictions of a reinforcement learning model of corticostriatal trial-and-error learning.
    1. Neuroscience

    A cell autonomous torsinA requirement for cholinergic neuron survival and motor control

    Samuel S Pappas et al.
    Conditional deletion of the DYT1 dystonia protein torsinA causes selective cell autonomous neurodegeneration of striatal and brainstem cholinergic neurons, and severe motor behavioral abnormalities.
    1. Structural Biology and Molecular Biophysics

    Structural basis for isoform-specific kinesin-1 recognition of Y-acidic cargo adaptors

    Stefano Pernigo et al.
    X-ray crystallography reveals how kinesin-1 recognises a novel class of cargo adaptor motifs in an isoform-specific manner.
    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

    A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

    Yi Bessie Liu et al.
    A mouse with a defined mutation in an extracellular matrix protein that is expressed in selected neurons sheds light on circuit abnormalities producing transient hyperkinetic movements.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    How lamina-associated polypeptide 1 (LAP1) activates Torsin

    Brian A Sosa et al.
    LAP1 adopts an AAA+ like fold that, while unable to bind nucleotide, can enhance ATPase activity in the neighboring TorsinA protomer in an unusual heterohexameric ring, via an arginine finger.

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