Ontology highlight
ABSTRACT:
SUBMITTER: Siebers EM
PROVIDER: S-EPMC6044411 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Siebers Emily M EM Choi Melinda J MJ Tinklenberg Jennifer A JA Beatka Margaret J MJ Ayres Samuel S Meng Hui H Helbling Daniel C DC Takizawa Akiko A Bennett Brian B Garces Alexander M AM Dias Duarte Machado Luiz-Gabriel LG Dimmock David D Dwinell Melinda R MR Geurts Aron M AM Lawlor Michael W MW
Journal of neuropathology and experimental neurology 20180801 8
Mitochondrial diseases (MDs) result from alteration of the mitochondrial respiratory chain (MRC) function. Despite the prevalence of MDs in the population, the paucity of animal models available limits the understanding of these disorders. Mutations in SDHA, a gene that codes for the alpha subunit of succinate dehydrogenase (SDH), can cause some forms of MD. SDHA is a crucial contributor to MRC function. In order to expand the range of MD animal models available, we attempted to generate a Sdha ...[more]