Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

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    257 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)664-669
    Numero di pagine6
    RivistaNature Neuroscience
    Volume17
    Stato di pubblicazionePublished - 2014

    All Science Journal Classification (ASJC) codes

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