Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

MATR3 is an RNA/DNA binding protein that interacts with TDP-43, a major disease protein linked to amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in the spinal cords of ALS ca...

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Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000579/
https://www.ncbi.nlm.nih.gov/pubmed/24686783
http://dx.doi.org/10.1038/nn.3688
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author 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.
author_facet 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.
author_sort Johnson, Janel O.
collection PubMed
description MATR3 is an RNA/DNA binding protein that interacts with TDP-43, a major disease protein linked to amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in the spinal cords of ALS cases with and without MATR3 mutations. Our data provide additional evidence supporting the role of aberrant RNA processing in motor neuron degeneration.
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spelling pubmed-40005792014-11-01 Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 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. Nat Neurosci Article MATR3 is an RNA/DNA binding protein that interacts with TDP-43, a major disease protein linked to amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in the spinal cords of ALS cases with and without MATR3 mutations. Our data provide additional evidence supporting the role of aberrant RNA processing in motor neuron degeneration. 2014-03-30 2014-05 /pmc/articles/PMC4000579/ /pubmed/24686783 http://dx.doi.org/10.1038/nn.3688 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
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.
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
title Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
title_full Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
title_fullStr Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
title_full_unstemmed Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
title_short Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
title_sort mutations in the matrin 3 gene cause familial amyotrophic lateral sclerosis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000579/
https://www.ncbi.nlm.nih.gov/pubmed/24686783
http://dx.doi.org/10.1038/nn.3688
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