Article
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
Nature neuroscience - 1 May 2014
Johnson Janel O, Pioro Erik P, Boehringer Ashley, Chia Ruth, Feit Howard, Renton Alan E, Pliner Hannah A, Abramzon Yevgeniya, Marangi Giuseppe, Winborn Brett J, Gibbs J Raphael, Nalls Michael A, Morgan Sarah, Shoai Maryam, Hardy John, Pittman Alan, Orrell Richard W, Malaspina Andrea, Sidle Katie C, Fratta Pietro, Harms Matthew B, Baloh Robert H, Pestronk Alan, Weihl Conrad C, Rogaeva Ekaterina, Zinman Lorne, Drory Vivian E, Borghero Giuseppe, Mora Gabriele, Calvo Andrea, Rothstein Jeffrey D, Drepper Carsten, Sendtner Michael, Singleton Andrew B, Taylor J Paul, Cookson Mark R, Restagno Gabriella, Sabatelli Mario, Bowser Robert, Chiò Adriano, Traynor Bryan J
Abstract excerpt
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...
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