Ontology highlight
ABSTRACT:
SUBMITTER: Ferreira N
PROVIDER: S-EPMC7055822 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Ferreira Nicola N Andoniou Christopher E CE Perks Kara L KL Ermer Judith A JA Rudler Danielle L DL Rossetti Giulia G Periyakaruppiah Ambika A Wong Jamie K Y JKY Rackham Oliver O Noakes Peter G PG Degli-Esposti Mariapia A MA Filipovska Aleksandra A
PLoS genetics 20200304 3
The influence of environmental insults on the onset and progression of mitochondrial diseases is unknown. To evaluate the effects of infection on mitochondrial disease we used a mouse model of Leigh Syndrome, where a missense mutation in the Taco1 gene results in the loss of the translation activator of cytochrome c oxidase subunit I (TACO1) protein. The mutation leads to an isolated complex IV deficiency that mimics the disease pathology observed in human patients with TACO1 mutations. We infec ...[more]