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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.

SUBMITTER: Johnson JO 

PROVIDER: S-EPMC4000579 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Johnson Janel O JO   Pioro Erik P EP   Boehringer Ashley A   Chia Ruth R   Feit Howard H   Renton Alan E AE   Pliner Hannah A HA   Abramzon Yevgeniya Y   Marangi Giuseppe G   Winborn Brett J BJ   Gibbs J Raphael JR   Nalls Michael A MA   Morgan Sarah S   Shoai Maryam M   Hardy John J   Pittman Alan A   Orrell Richard W RW   Malaspina Andrea A   Sidle Katie C KC   Fratta Pietro P   Fratta Pietro P   Harms Matthew B MB   Baloh Robert H RH   Pestronk Alan A   Weihl Conrad C CC   Rogaeva Ekaterina E   Zinman Lorne L   Drory Vivian E VE   Borghero Giuseppe G   Mora Gabriele G   Calvo Andrea A   Rothstein Jeffrey D JD   Drepper Carsten C   Sendtner Michael M   Singleton Andrew B AB   Taylor J Paul JP   Cookson Mark R MR   Restagno Gabriella G   Sabatelli Mario M   Bowser Robert R   Chiò Adriano A   Traynor Bryan J BJ  

Nature neuroscience 20140330 5

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. ...[more]

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