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Showing 1–6 of 6 results
Advanced filters: Author: Meraida A. Polak Clear advanced filters

  • Ian Blair and colleagues use genome-wide linkage analysis and whole exome sequencing to identify mutations in the CCNF gene in large cohorts of amyotrophic lateral sclerosis and frontotemporal dementia patients. In addition to validating the mutations in international cohorts, the authors also show that mutant CCNFgene product affects ubiquitination and protein degradation in cultured cells.

    • Kelly L. Williams
    • Simon Topp
    • Ian P. Blair
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-8

  • 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

  • Relatives of patients with amyotrophic lateral sclerosis have an unexpectedly high incidence of schizophrenia. Here, the authors show a genetic link between the two conditions, suggesting shared neurobiological mechanisms.

    • Russell L. McLaughlin
    • Dick Schijven
    • Michael C. O’Donovan
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-12

  • Ammar Al-Chalabi, Jan Veldink and colleagues perform a genome-wide association study for amyotrophic lateral sclerosis (ALS) in 15,156 cases and 26,242 controls. They identify three new genome-wide-significant variants and establish ALS as a complex trait with a polygenic architecture, but with a distinct and important role for low-frequency variants.

    • Wouter van Rheenen
    • Aleksey Shatunov
    • Jan H Veldink
    Research
    Nature Genetics
    Volume: 48, P: 1043-1048

  • 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