NYU Data Catalog

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  • NYU Dataset

    Lysosomal Dysfunction in Down Syndrome is APP-Dependent and Mediated by APP-βCTF

    Authors
    Ying Jiang
    Yutaka Sato
    Eunju Im
    Martin J. Berg
    8 more author(s)...
    Description

    Lysosomal failure plays an important role in the pathogenesis of many congenital neurodegenerative disorders, such as Alzheimer’s disease (AD) and Down syndrome (DS). This study showed that lysosomal dysfunction in DS requires the extra gene copy of amyloid precursor protein (APP) and is specifically mediated by the β cleaved carboxy terminal fragment of APP (APP-βCTF). In primary fibroblasts from...

    Subject
    Genomics
    Neuroscience
    Access Rights
    Free to All
  • 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
    Access Rights
    Free to All