48 results found
    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

    Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons

    Samuel S Pappas et al.
    Conditional forebrain deletion of Tor1a generates a dystonia model with face, construct, and predictive validity, and demonstrates that striatal cholinergic interneurons are selectively vulnerable to loss of the dystonia protein torsinA.
    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. Structural Biology and Molecular Biophysics
    2. Cell Biology

    Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia

    F Esra Demircioglu et al.
    High resolution structures of the essential human AAA+ ATPase TorsinA and its disease mutant in complex with an activator reveal details of the interaction that will guide drug design and further functional characterization.
    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. 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. 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. Neuroscience

    Live calcium and mitochondrial imaging in the enteric nervous system of Parkinson patients and controls

    An-Sofie Desmet et al.
    In contrast to previous post-mortem or fixed tissue histochemical reports, live calcium and mitochondrial imaging data suggest that the enteric nervous system is not generally affected in Parkinson's disease patients.
    1. Cell Biology

    High lumenal chloride in the lysosome is critical for lysosome function

    Kasturi Chakraborty et al.
    Lysosomes are highly enriched in chloride, which is essential for their degradative function.
    1. Structural Biology and Molecular Biophysics

    Myosin motors fragment and compact membrane-bound actin filaments

    Sven K Vogel et al.
    A combination of single-molecule imaging and an in vitro model of the cell cortex has allowed the interactions between actin filaments and filaments made of myosin II to be studied in detail.

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