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.
Lingua originale | English |
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pagine (da-a) | 664-666 |
Numero di pagine | 3 |
Rivista | Nature Neuroscience |
Volume | 17 |
DOI | |
Stato di pubblicazione | Pubblicato - 2014 |
Keywords
- Amyotrophic lateral sclerosis
- MATR3