Open access
Oct 2026
Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease
Mitochondrial disease arises from variants in either the mitochondrial or nuclear genome that impair mitochondrial oxidative phosphorylation. Complex III (ubiquinol:cytochrome c oxidoreductase, CIII2) is a key enzyme of the mitochondrial respiratory chain, catalyzing electron transfer from reduced coenzyme Q10 (ubiquin...
R. W. Taylor, S. Smith, S. Saadi et al.
· medRxiv · 0 citations