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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 Oct 2026

Biallelic BECN1 variants cause neurodevelopmental disorders via AMPA receptor dysregulation

Genetic regulation of neurodevelopmental disorders that impair brain development and social interaction is complex and poorly understood. Although emerging evidence suggests a link between neurodevelopmental disorders and autophagy deficits, congenital autophagy gene disorders are rare in humans, and underlying molecul...

K. Kuramoto, F. Ullah, P. Liang et al. · 0 citations

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