Ontology highlight
ABSTRACT:
SUBMITTER: Song Y
PROVIDER: S-EPMC2791221 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Song Yuanquan Y Selak Mary A MA Watson Corey T CT Coutts Christopher C Scherer Paul C PC Panzer Jessica A JA Gibbs Sarah S Scott Marion O MO Willer Gregory G Gregg Ronald G RG Ali Declan W DW Bennett Michael J MJ Balice-Gordon Rita J RJ
PloS one 20091217 12
In humans, mutations in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH) lead to MADD/glutaric aciduria type II, an autosomal recessively inherited disorder characterized by a broad spectrum of devastating neurological, systemic and metabolic symptoms. We show that a zebrafish mutant in ETFDH, xavier, and fibroblast cells from MADD patients demonstrate similar mitochondrial and metabolic abnormalities, including reduced oxidative phosphorylation, incre ...[more]