ALS Compendium

Title: Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Year Published: 2014

Observation: Detected MATR3 positive cytoplasmic inclusions in patients carrying C9ORF72 mutation. Identified Phe115Cys, Ser85Cys and Thr622Ala mutations. Found no effect of Phe115Cys and Thr622Ala mutations on MATR3-TDP43 interaction

Comment: Identified mutation in MATR3 in ALS kindreds More evidence for aberrant RNA processing

Citation: Johnson, J. O., Pioro, E. P., Boehringer, A., Chia, R., Feit, H., Renton, A. E., … Singleton, A. B. (2014). Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis, (March), 1–6. doi:10.1038/nn.3688

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