Ontology highlight
ABSTRACT:
SUBMITTER: Sarasija S
PROVIDER: S-EPMC6075864 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Sarasija Shaarika S Laboy Jocelyn T JT Ashkavand Zahra Z Bonner Jennifer J Tang Yi Y Norman Kenneth R KR
eLife 20180710
Mitochondrial dysfunction and subsequent metabolic deregulation is observed in neurodegenerative diseases and aging. Mutations in the presenilin (PSEN) encoding genes (<i>PSEN1</i> and <i>PSEN2</i>) cause most cases of familial Alzheimer's disease (AD); however, the underlying mechanism of pathogenesis remains unclear. Here, we show that mutations in the <i>C. elegans</i> gene encoding a PSEN homolog, <i>sel-12</i> result in mitochondrial metabolic defects that promote neurodegeneration as a res ...[more]