Ontology highlight
ABSTRACT:
SUBMITTER: Matic S
PROVIDER: S-EPMC5865154 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Matic Stanka S Jiang Min M Nicholls Thomas J TJ Uhler Jay P JP Dirksen-Schwanenland Caren C Polosa Paola Loguercio PL Simard Marie-Lune ML Li Xinping X Atanassov Ilian I Rackham Oliver O Filipovska Aleksandra A Stewart James B JB Falkenberg Maria M Larsson Nils-Göran NG Milenkovic Dusanka D
Nature communications 20180323 1
Replication of mammalian mitochondrial DNA (mtDNA) is an essential process that requires high fidelity and control at multiple levels to ensure proper mitochondrial function. Mutations in the mitochondrial genome maintenance exonuclease 1 (MGME1) gene were recently reported in mitochondrial disease patients. Here, to study disease pathophysiology, we generated Mgme1 knockout mice and report that homozygous knockouts develop depletion and multiple deletions of mtDNA. The mtDNA replication stallin ...[more]