Associated Papers
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH et al.
Genome Medicine, 2025
40400026 (PubMed )
Supplement: 13073_2025_1467_MOESM1_ESM.xlsx › VC_validation_cohort
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Feichtinger RG et al.
Oxidative Medicine and Cellular Longevity, 2017
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
Tucker EJ et al.
Plos Genetics, 2013
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