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90 results found
    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.
    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. 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. 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. 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. 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. Structural Biology and Molecular Biophysics

    The structure of SV40 large T hexameric helicase in complex with AT-rich origin DNA

    Dahai Gai et al.
    A structural study reveals how the simian virus 40 Large-T hexamer helicase interacts with its origin DNA and partially melts the origin double-stranded DNA within the hexamer channel.
    1. Biochemistry and Chemical Biology

    RNA-Binding Proteins: A matter of balance

    Aaron D Gitler, John D Fryer
    New analyses shift the view that some forms of amyotrophic lateral sclerosis and frontotemporal dementia are due to defects in a single RNA-binding protein.
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    1. Cell Biology
    2. Genetics and Genomics

    Manipulation of the human tRNA pool reveals distinct tRNA sets that act in cellular proliferation or cell cycle arrest

    Noa Aharon-Hefetz et al.
    Systematic CRISPR-based editing of tRNA genes revealed that different human cells that span a range of growth rates and different modes of proliferation states require diverse tRNA sets.
    1. Developmental Biology

    SlitC-PlexinA1 mediates iterative inhibition for orderly passage of spinal commissural axons through the floor plate

    Hugo Ducuing et al.
    A combination of in vivo models and imaging techniques reveals the distribution of guidance cues and their mechanisms of action during commissural axon navigation of intermediate target.

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