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C. Alston

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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. · 0 citations
Open access Jul 2026

Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant

The value of large, well-characterized patient cohorts in identifying modifier loci and advancing knowledge of the mechanisms underlying phenotypic variability in mtDNA disease is highlighted, as each showed the strongest gene-level signals within the linkage region across complementary burden-testing methods.

R. Boggan, Theodora-Dafni Michalettou, Y. Ng et al. · 0 citations

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