Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control
Daniela Burská, Lukáš Stibůrek, Jana Křížová, Marie Vanišová, Václav Martínek, Jana Sládková, Josef Zámečnı́k, Tomáš Honzík, J Zeman, Hana Hansíková, Markéta Tesařová
Topics & Concepts
Protein subunitMissense mutationBiologyMitochondrial matrixMitochondrial DNAMutantMutationMitochondrionCell biologyGeneticsMolecular biologyBiochemistryGeneCytosolEnzymeMitochondrial Function and PathologyATP Synthase and ATPases ResearchMetabolism and Genetic Disorders