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Showing 1–4 of 4 results
Advanced filters: Author: Pamela J. Keagle Clear advanced filters

  • Mutations in profilin 1 (PFN1), which modulates actin dynamics, are associated with ALS. Here the authors show that expression of ALS-PFN1 is sufficient to induce deficits in human microglia-like cells, including impaired phagocytosis and lipid metabolism, and that gain-of-function interactions between ALS-PFN1 and PI3P may underlie these deficits.

    • Salome Funes
    • Jonathan Jung
    • Daryl A. Bosco
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-25

  • Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 variants in ALS cases, they report a significant association between a specific NEK1 missense variant (p.Arg261His) and disease risk.

    • Kevin P Kenna
    • Perry T C van Doormaal
    • John E Landers
    Research
    Nature Genetics
    Volume: 48, P: 1037-1042

  • Mutations in the profilin 1 (PFN1) gene, which is crucial for the conversion of monomeric to filamentous actin, can cause familial amyotrophic lateral sclerosis, suggesting that alterations in cytoskeletal pathways contribute to disease pathogenesis.

    • Chi-Hong Wu
    • Claudia Fallini
    • John E. Landers
    Research
    Nature
    Volume: 488, P: 499-503