@article{249515fc9b0a423790cdb6fa6f0963cd,
title = "Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis",
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.",
author = "ITALSGEN and Johnson, {Janel O.} and Pioro, {Erik P.} and Ashley Boehringer and Ruth Chia and Howard Feit and Renton, {Alan E.} and Pliner, {Hannah A.} and Yevgeniya Abramzon and Giuseppe Marangi and Winborn, {Brett J.} and Gibbs, {J. Raphael} and Nalls, {Michael A.} and Sarah Morgan and Maryam Shoai and John Hardy and Alan Pittman and Orrell, {Richard W.} and Andrea Malaspina and Sidle, {Katie C.} and Pietro Fratta and Harms, {Matthew B.} and Baloh, {Robert H.} and Alan Pestronk and Weihl, {Conrad C.} and Ekaterina Rogaeva and Lorne Zinman and Drory, {Vivian E.} and Giuseppe Borghero and Gabriele Mora and Andrea Calvo and Rothstein, {Jeffrey D.} and Carsten Drepper and Michael Sendtner and Singleton, {Andrew B.} and Taylor, {J. Paul} and Cookson, {Mark R.} and Gabriella Restagno and Mario Sabatelli and Robert Bowser and Adriano Chio` and Traynor, {Bryan J.} and Cristina Moglia and Stefania Cammarosano and Antonio Canosa and Sara Gallo and Maura Brunetti and Irene Ossola and Kalliopi Marinou and Laura Papetti and Fabrizio Pisano",
year = "2014",
doi = "10.1038/nn.3688",
language = "English (US)",
volume = "17",
pages = "664--666",
journal = "Nature Neuroscience",
issn = "1097-6256",
publisher = "Nature Publishing Group",
number = "5",
}