Mutations In The Matrin 3 Gene Cause Familial Amyotrophic Lateral Sclerosis
Department
neurobiology
Document Type
Article
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. © 2014 Nature America, Inc. All rights reserved.
Publication Date
1-1-2014
Publication Title
Nature Neuroscience
ISSN
10976256
Volume
17
Issue
5
First Page
664
Last Page
666
Digital Object Identifier (DOI)
10.1038/nn.3688
Recommended Citation
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; Chio, Adriano; Traynor, Bryan J.; Moglia, Cristina; Cammarosano, Stefania; Canosa, Antonio; Gallo, Sara; Brunetti, Maura; Ossola, Irene; Marinou, Kalliopi; Papetti, Laura; and Pisano, Fabrizio, "Mutations In The Matrin 3 Gene Cause Familial Amyotrophic Lateral Sclerosis" (2014). Translational Neuroscience. 24.
https://scholar.barrowneuro.org/neurobiology/24