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  1. Article

    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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  2. No Access

    Article

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

    Many neurodegenerative disorders, such as Alzheimer’s, Parkinson’s and polyglutamine diseases, share a common pathogenic mechanism: the abnormal accumulation of disease-causing proteins, due to either the muta...

    Jeehye Park, Ismael Al-Ramahi, Qiumin Tan, Nissa Mollema, Javier R. Diaz-Garcia… in Nature (2013)

  3. No Access

    Article

    Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin

    The PINK1 gene was recently implicated in autosomal recessive juvenile Parkinson's disease. Two groups have studied the equivalent gene in the fruitfly Drosophila, and find that it localizes to mitochondria in vi...

    Jeehye Park, Sung Bae Lee, Sungkyu Lee, Yongsung Kim, Saera Song, Sunhong Kim… in Nature (2006)