168 results found
    1. Genetics and Genomics
    2. Neuroscience

    Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

    Myungjin Kim et al.
    A genetic mutation that impairs autophagic flux leads to neurodegeneration and can cause ataxia and developmental delay in children.
    1. Human Biology and Medicine
    2. Neuroscience

    Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia

    Vijayendran Chandran et al.
    Restoration of endogenous frataxin levels reverses neurologic and cardiac phenotypes associated with Friedreich's ataxia in adult mice even after significant motor dysfunction.
    1. Neuroscience

    A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2

    Pratap Meera et al.
    A damaging form of positive feedback linking elevated calcium levels and metabotropic glutamate receptor function in Purkinje neurons plays a critical role in the pathology in spinocerebellar ataxias.
    1. Neuroscience

    A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1

    Cristian A Lasagna-Reeves et al.
    Studies in a mouse model of spinocerebellar ataxia type 1 show that a protein called capicua stabilizes toxic ataxin-1 oligomers offering a possible explanation for regional patterns of neurodegeneration.
    1. Neuroscience

    A quantitative framework for whole-body coordination reveals specific deficits in freely walking ataxic mice

    Ana S Machado et al.
    Analysis of 3D paw kinematics and whole-body coordination in freely walking mice isolates specific features of gait ataxia and supports the hypothesis that the cerebellum provides an internal forward model for motor control.
    1. Genetics and Genomics
    2. Neuroscience

    Autophagy: A cause for childhood ataxia

    Joan S Steffan
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    1. Biochemistry and Chemical Biology

    Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes

    Cristian A Lasagna-Reeves et al.
    Building on previous work (Lasagna-Reeves et al., 2015) it is shown that polyglutamine ATXN1 oligomers propagate locally in SCA1 mice, and that passive immunotherapy targeting soluble oligomers can lead to an improvement in motor coordination and a modest increase in life span.
    1. Cell Biology
    2. Neuroscience

    Ataxin-7 and Non-stop coordinate SCAR protein levels, subcellular localization, and actin cytoskeleton organization

    Veronica Cloud et al.
    An unbiased biochemical screen reveals a direct link between gene regulation and actin cytoskeleton remodeling.
    1. Neuroscience

    Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1

    Terri M Driessen et al.
    Unbiased transcriptomics reveals novel insights into the mechanisms that may contribute to regional neurodegeneration in SCA1, and other SCAs in general.
    1. Neuroscience

    Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration

    Kuchuan Chen et al.
    In Drosophila, the loss of Frataxin causes iron accumulation in the nervous system, which in turn enhances sphingolipid synthesis and activation of PDK1 and Mef2, which leads to neurodegeneration.

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