FUS mutations in sporadic amyotrophic lateral sclerosis

Mario Sabatelli, Amelia Conte, S Lai, Y Abramzon, Jc Schymick, Da Stephan, T Dunckley, A Dillman, M Cookson, A Calvo, S Battistini, F Giannini, C Caponnetto, Gl Mancardi, R Spataro, Mr Monsurro, G Tedeschi, K Marinou, J Mandrioli, P SolaF Salvi, I Bartolomei, F Lombardo, G Mora, G Restagno, A Chiò, Bj Traynor

Risultato della ricerca: Contributo in rivistaArticolo in rivista

61 Citazioni (Scopus)

Abstract

Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease.
Lingua originaleEnglish
pagine (da-a)550.e1-550.e1-4
Numero di pagine4
RivistaNeurobiology of Aging
Volume32
DOI
Stato di pubblicazionePubblicato - 2011

Keywords

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis
  • Child
  • DNA Mutational Analysis
  • Exons
  • Female
  • Genotype
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Mutation
  • RNA-Binding Protein FUS
  • United States
  • Young Adult

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