Journal
NATURE NEUROSCIENCE
Volume 17, Issue 5, Pages 664-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nn.3688
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Funding
- Intramural Research Programs of the US National Institutes of Health (NIH)
- National Institute on Aging [Z01-AG000949-02]
- NINDS
- Packard Center for ALS Research at Johns Hopkins
- ALS Association
- Ontario Research Fund
- UK MND Association [11/6075]
- Medical Research Council (MRC) UK
- Wellcome Trust/MRC Joint Call in Neurodegeneration Award [WT089698]
- MRC Neuromuscular Centre
- UK National Institute for Health Research Biomedical Research Unit
- Biomedical Research Centre
- MRC/Motor Neuron Disease Association Lady Edith Wolfson fellowship
- AriSLA-Italian Research Foundation for Amyotrophic Lateral Sclerosis
- Italian Health Ministry
- Fondazione Vialli e Mauro Onlus
- Federazione Italiana Giuoco Calcio
- Compagnia di San Paolo
- European Community [259867]
- EuroMOTOR
- German Federal Ministry of Education and Research (BMBF)
- German Network for Motoneuron Disease [TP4]
- NIH [NS061867]
- Adelis Foundation
- MRC [G1000287, MC_G1000735] Funding Source: UKRI
- Medical Research Council [MC_G1000735, G1000287] Funding Source: researchfish
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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.
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