Ontology highlight
ABSTRACT:
SUBMITTER: Siegmund SE
PROVIDER: S-EPMC6137323 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Siegmund Stephanie E SE Grassucci Robert R Carter Stephen D SD Barca Emanuele E Farino Zachary J ZJ Juanola-Falgarona Martí M Zhang Peijun P Tanji Kurenai K Hirano Michio M Schon Eric A EA Frank Joachim J Freyberg Zachary Z
iScience 20180720
Mitochondrial diseases produce profound neurological dysfunction via mutations affecting mitochondrial energy production, including the relatively common Leigh syndrome (LS). We recently described an LS case caused by a pathogenic mutation in USMG5, encoding a small supernumerary subunit of mitochondrial ATP synthase. This protein is integral for ATP synthase dimerization, and patient fibroblasts revealed an almost total loss of ATP synthase dimers. Here, we utilize in situ cryoelectron tomograp ...[more]