Title

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

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