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Showing 1–2 of 2 results
Advanced filters: Author: Alya R Raphael Clear advanced filters

  • Exome sequencing of 47 ALS trios (patients and their unaffected parents) identified de novo mutations, including a mutation in the neuronal chromatin remodeling complex component, SS18L1. SS18L1 interacted with the ALS protein FUS, and mutation of SS18L1 in primary neurons resulted in impaired neurite outgrowth.

    • Alessandra Chesi
    • Brett T Staahl
    • Aaron D Gitler
    Research
    Nature Neuroscience
    Volume: 16, P: 851-855

  • Nancy Bonini and colleagues performed a genome-wide yeast screen for modifiers of TDP-43 toxicity and identified genes in RNA metabolism, including several RNA-binding proteins with connections to stress granules. They determined that therapeutic modulation of stress granule–associated eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models in flies and primary mammalian neurons.

    • Hyung-Jun Kim
    • Alya R Raphael
    • Nancy M Bonini
    Research
    Nature Genetics
    Volume: 46, P: 152-160