Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

PLoS Genetics

Volumn 9, Issue 12, 2013, Pages

  Tucker, Elena J ^a,b   Wanschers, Bas F J ^c,d   Szklarczyk, Radek ^c,j   Mountford, Hayley S ^a,b   Wijeyeratne, Xiaonan W ^e   van den Brand, Mariël A M ^d   Leenders, Anne M ^d   Rodenburg, Richard J ^d   Reljić, Boris ^e   Compton, Alison G ^a,b   Frazier, Ann E ^a,b   Bruno, Damien L ^a   Christodoulou, John ^f,g   Endo, Hitoshi ^h   Ryan, Michael T ^e,i   Nijtmans, Leo G ^d   Huynen, Martijn A ^c   Thorburn, David R ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e LA TROBE UNIVERSITY   (Australia)

^f CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^g UNIVERSITY OF SYDNEY   (Australia)

^h JICHI MEDICAL UNIVERSITY   (Japan)

ⁱ LA TROBE UNIVERSITY   (Australia)

^j MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME B; MITOCHONDRIAL DNA;

ARTICLE; CBP6P GENE; CHILD; COMPLEX III DEFICIENCY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; EMBRYO; ETHNIC GROUP; FEMALE; FIBROBLAST; FUNGAL GENE; GENE; GENE INTERACTION; GENE MUTATION; GENE SYNTHESIS; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; INTRAUTERINE GROWTH RETARDATION; KIDNEY TUBULE DISORDER; LACTIC ACIDOSIS; LEBANESE; MOLECULAR PATHOLOGY; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; RNA SPLICING; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY; UQCC1 GENE; UQCC2 GENE;

CONSANGUINITY; CYTOCHROMES B; ELECTRON TRANSPORT COMPLEX III; FIBROBLASTS; GENE EXPRESSION REGULATION; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MOLECULAR CHAPERONES; MUTATION; OXIDATIVE PHOSPHORYLATION; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS;

EID: 84892727173     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004034     Document Type: Article

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