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.

Johnson, J., Pioro, E., Boehringer, A., Chia, R., Feit, H., Renton, A., Pliner, H., Abramzon, Y., Marangi, G., Winborn, B., Gibbs, J., Nalls, M., Morgan, S., Shoai, M., Hardy, J., Pittman, A., Orrell, R., Malaspina, A., Sidle, K., Fratta, P., Harms, M., Baloh, R., Pestronk, A., Weihl, C., Rogaeva, E., Zinman, L., Drory, V., Borghero, G., Mora, G., Calvo, A., Rothstein, J., Drepper, C., Sendtner, M., Singleton, A., Taylor, J., Cookson, M., Restagno, G., Sabatelli, M., Bowser, R., Chiò, A., Traynor, B., Conte, A., Luigetti, M., Zollino, M., Lattante, S., Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis, <<NATURE NEUROSCIENCE>>, 2014; 17 (5): 664-666. [doi:10.1038/nn.3688] [http://hdl.handle.net/10807/56963]

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Marangi, Giuseppe;Sabatelli, Mario;Conte, Amelia;Luigetti, Marco;Zollino, Marcella;Lattante, Serena
2014

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
Inglese
Johnson, J., Pioro, E., Boehringer, A., Chia, R., Feit, H., Renton, A., Pliner, H., Abramzon, Y., Marangi, G., Winborn, B., Gibbs, J., Nalls, M., Morgan, S., Shoai, M., Hardy, J., Pittman, A., Orrell, R., Malaspina, A., Sidle, K., Fratta, P., Harms, M., Baloh, R., Pestronk, A., Weihl, C., Rogaeva, E., Zinman, L., Drory, V., Borghero, G., Mora, G., Calvo, A., Rothstein, J., Drepper, C., Sendtner, M., Singleton, A., Taylor, J., Cookson, M., Restagno, G., Sabatelli, M., Bowser, R., Chiò, A., Traynor, B., Conte, A., Luigetti, M., Zollino, M., Lattante, S., Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis, <<NATURE NEUROSCIENCE>>, 2014; 17 (5): 664-666. [doi:10.1038/nn.3688] [http://hdl.handle.net/10807/56963]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/56963
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