6 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

    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 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. Cell Biology
    2. Developmental Biology

    Loss of the transcription factor Meis1 prevents sympathetic neurons target-field innervation and increases susceptibility to sudden cardiac death

    Fabrice Bouilloux et al.
    The transcription factor Meis1 is a dedicated maintenance factor for sympathetic neurons and controls the expression of key genes involved in endosome trafficking.
    1. Genetics and Genomics

    Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

    Paul RHJ Timmers et al.
    Genomic associations with lifespan principally reflect heart disease/smoking/dementia but not other cancers, and distinguish lifespan differences of five years between top/bottom deciles of a score derived from DNA alone.
    1. Neuroscience

    TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

    Sunetra Sase et al.
    H-ABC leukodystrophy results in neurologic decline, hypomyelination and atrophy of the striatum and cerebellum and Tubb4aD249N/D249Nmouse model recapitulates features of H-ABC disease, providing an important tool for therapeutic development.

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