Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive Plus
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Cell Culture, Skin Fibroblast
DISEASE(S): Mitochondrial Complex I Deficiency
SUBMITTER: David Meierhofer
LAB HEAD: David Meierhofer
PROVIDER: PXD009743 | Pride | 2019-10-16
REPOSITORIES: Pride
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Cells 20190925 10
Complex I (CI) is the first enzyme of the mitochondrial respiratory chain and couples the electron transfer with proton pumping. Mutations in genes encoding CI subunits can frequently cause inborn metabolic errors. We applied proteome and metabolome profiling of patient-derived cells harboring pathogenic mutations in two distinct CI genes to elucidate underlying pathomechanisms on the molecular level. Our results indicated that the electron transfer within CI was interrupted in both patients by ...[more]