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Author

K. Fragaki

2 papers indexed here

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Open access Oct 2026

Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization.

Mitochondrial diseases (MD) are the most common inherited metabolic disorders and show marked clinical and genetic heterogeneity. Despite widespread use of whole-exome (WES) and whole-genome sequencing (WGS), nearly half of patients remain without molecular diagnosis, partly due to difficulties in interpreting variants...

Lucile Riera-Navarro, Éléonore Birgy, S. Ait-El-Mkadem Saadi et al. · 0 citations
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

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