40 results found
    1. Cell Biology
    2. Neuroscience

    C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import

    Lindsey R Hayes et al.
    Poly-PR and poly-GR interact with importin β, disrupt importin-cargo loading, and inhibit nuclear import in permeabilized cells in a manner that can be rescued by RNA.
    1. Biochemistry and Chemical Biology

    The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

    Erin G Conlon et al.
    The C9orf72 expansion binds and sequesters the splicing factor hnRNP H leading to insoluble G-quadruplex aggregates that functionally reduce hnRNP H, thereby producing splicing defects.
    1. Biochemistry and Chemical Biology
    2. Medicine

    Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism

    Erin G Conlon et al.
    Idiopathic patients along a complex motor neuron disease-dementia spectrum exhibit mRNA splicing changes that are due to multi-protein insolubility.
    1. Neuroscience

    Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila

    Magda L Atilano et al.
    Modulation of insulin signalling could be an effective therapeutic approach against hexanucleotide repeat expansion related to c9ALS/FTD neurodegenerative diseases.
    1. Cell Biology
    2. Neuroscience

    Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72

    Carl Laflamme et al.
    An easy-to-implement antibody validation pipeline addresses the reproducibility crisis resulting from the use of non-specific antibodies.
    1. Biochemistry and Chemical Biology
    2. Neuroscience

    Multiple pathways of toxicity induced by C9orf72 dipeptide repeat aggregates and G4C2 RNA in a cellular model

    Frédéric Frottin et al.
    Protein aggregates resulting from mutations in C9orf72 impair different aspects of cellular quality control in the cytosol and the nucleus, but mRNA-mediated effects contribute more strongly to toxicity.
    1. Neuroscience

    Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106

    Barbara Celona et al.
    Zfp106 functions as an RNA binding protein, binds directly to GGGGCC RNA repeats, is required in motor neurons to prevent ALS-like neurodegeneration in mice, and can suppress neurotoxicity in an established fly model of ALS.
    1. Cell Biology
    2. Neuroscience

    TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS

    Kathleen M Cunningham et al.
    Impaired nuclear import of the transcription factor TFEB/MITF is a major cause of autophagy and lysosome dysfunction in amyotrophic lateral sclerosis caused by mutations in the C9orf72 gene.
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator

    Jennifer Jung et al.
    An image-based multiplex autophagosome RNAi screen targeting all Rab GTPases as well as their GAPs and GEFs identifies the Rab GEF SMCR8 as multifaceted autophagy modulator, which regulates kinase activity and gene expression of ULK1.
    1. Cell Biology

    GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function

    Alondra Schweizer Burguete et al.
    Expanded repeat RNAs associated with human neurodegenerative diseases can become incorporated into transported granules in neurons, perturbing their function to cause neuritic branching defects.

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