Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control

The mitochondrial respiratory chain (MRC) complex III (CIII) associates with complexes I and IV (CI and CIV) into supercomplexes. We identified a novel homozygous missense mutation (c.665G>C; p.Gly222Ala) in UQCRC2 coding for structural subunit Core 2 in a patient with severe encephalomyopathy. T...

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Veröffentlicht in:	Biochimica et biophysica acta. Molecular basis of disease 2021-08, Vol.1867 (8), p.166147-166147, Article 166147
Hauptverfasser:	Burska, Daniela, Stiburek, Lukas, Krizova, Jana, Vanisova, Marie, Martinek, Vaclav, Sladkova, Jana, Zamecnik, Josef, Honzik, Tomas, Zeman, Jiri, Hansikova, Hana, Tesarova, Marketa
Format:	Artikel
Sprache:	eng
Schlagworte:	Caseinolytic mitochondrial matrix peptidase proteolytic subunit (CLPP) Mitochondrial complex III Mitochondrial dysfunction Mitochondrial protein quality control Respiratory supercomplexes UQCRC2 (Core2, Core 2)
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