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.
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis / Johnson, J.O., Pioro, E.P., Boehringer, A., Chia, R., Feit, H., Renton, A.E., Pliner, H.A., Abramzon, Y., Marangi, G., Winborn, B.J., Gibbs, J.R., Nalls, M.A., Morgan, S., Shoai, M., Hardy, J., Pittman, A., Orrell, R.W., Malaspina, A., Sidle, K.C., Fratta, P., et al.. - In: NATURE NEUROSCIENCE. - ISSN 1097-6256. - 17:5(2014), pp. 664-666. [10.1038/nn.3688]
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Mandrioli J.;
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 Nature America, Inc. All rights reserved.
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