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  • NYU Dataset

    Mammalian Target of Rapamycin Hyperactivation in Down Syndrome Results in Mitophagy Deficiency

    Authors
    Matteo Bordi
    Sandipkumar Darji
    Yutaka Sato
    Marian Mellen
    4 more author(s)...
    Description

    Down syndrome (DS) is linked with mitochondrial dysfunction, which results in accumulation of damaged mitochondria. This study revealed that mitophagy, a form of selective autophagy activated to clear damaged mitochondria, is deficient in primary human fibroblasts derived from individuals with DS leading to accumulation of damaged mitochondria with consequent increases in oxidative stress. RNA sequencing...

    Subject
    Genomics
    Neuroscience
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