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Showing 1–2 of 2 results
Advanced filters: Author: Claudia Colombrita Clear advanced filters

  • 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

  • Although defects in nucleocytoplasmic transport (NCT) may be central to the pathogenesis of ALS, the molecular mechanisms modulating the nuclear pore function are still largely unknown. Here, authors show that genetic and pharmacological modulation of actin polymerization disrupts nuclear pore integrity and can be targeted to rescue nuclear pore instability and dysfunction caused by mutant PFN1 as well as by C9ORF72 repeat expansion

    • Anthony Giampetruzzi
    • Eric W. Danielson
    • Claudia Fallini
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-15