A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

Human molecular genetics

Volumn 23, Issue 23, 2014, Pages 6356-6365

  Wanschers, Bas F J ^a   Szklarczyk, Radek ^b   van den Brand, Mariël A M ^a   Jonckheere, An ^a   Suijskens, Janneke ^b   Smeets, Roel ^a   Rodenburg, Richard J ^a   Stephan, Katharina ^a   Helland, Ingrid B ^a   Elkamil, Areej ^a   Rootwelt, Terje ^a   Ott, Martin ^a   van den Heuvel, Lambert ^a   Nijtmans, Leo G ^a   Huynen, Martijn A ^a  

^a TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CBP4 PROTEIN, S CEREVISIAE; CYTOCHROME B; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; SACCHAROMYCES CEREVISIAE PROTEIN; UBIQUINOL CYTOCHROME C REDUCTASE; UQCC PROTEIN, HUMAN; UQCC2 PROTEIN, HUMAN; UQCC3 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; CONSANGUINITY; DEFICIENCY; ENZYME STABILITY; FEMALE; FIBROBLAST; GENETICS; HUMAN; METABOLISM; MISSENSE MUTATION; MITOCHONDRION; MOLECULAR GENETICS; NEWBORN; TUMOR CELL LINE;

AMINO ACID SEQUENCE; CARRIER PROTEINS; CELL LINE, TUMOR; CONSANGUINITY; CYTOCHROMES B; ELECTRON TRANSPORT COMPLEX III; ENZYME STABILITY; FEMALE; FIBROBLASTS; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SACCHAROMYCES CEREVISIAE PROTEINS;

EID: 84924900908     PISSN: None     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu357     Document Type: Article

References (0)