Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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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.

Original languageEnglish
Pages (from-to)664-666
Number of pages3
JournalNature neuroscience
Volume17
Issue number5
DOIs
StatePublished - 2014

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