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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares