Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Janel O. Johnson, Erik P. Pioro, Ashley Boehringer, Ruth Chia, Howard Feit, Alan E. Renton, Hannah A. Pliner, Yevgeniya Abramzon, Giuseppe Marangi, Brett J. Winborn, J. Raphael Gibbs, Michael A. Nalls, Sarah Morgan, Maryam Shoai, John Hardy, Alan Pittman, Richard W. Orrell, Andrea Malaspina, Katie C. Sidle, Pietro FrattaMatthew B. Harms, Robert H. Baloh, Alan Pestronk, Conrad C. Weihl, Ekaterina Rogaeva, Lorne Zinman, Vivian E. Drory, Giuseppe Borghero, Gabriele Mora, Andrea Calvo, Jeffrey D. Rothstein, Carsten Drepper, Michael Sendtner, Andrew B. Singleton, J. Paul Taylor, Mark R. Cookson, Gabriella Restagno, Mario Sabatelli, Robert Bowser, Adriano Chiò, Bryan J. Traynor

Research output: Contribution to journalArticlepeer-review

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
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Neuroscience(all)

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