Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

263 Citazioni (Scopus)

Abstract

MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.
Lingua originaleEnglish
pagine (da-a)664-666
Numero di pagine3
RivistaNature Neuroscience
Volume17
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • Amyotrophic lateral sclerosis
  • MATR3

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