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RAS–MAPK–MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1

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    Open Access

    Selective neuronal degeneration in MATR3 S85C knock-in mouse model of early-stage ALS

    A missense mutation, S85C, in the MATR3 gene is a genetic cause for amyotrophic lateral sclerosis (ALS). It is unclear how the S85C mutation affects MATR3 function and contributes to disease. Here, we develop a m...

    Ching Serena Kao, Rebekah van Bruggen, Jihye Rachel Kim… in Nature Communications (2020)

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