Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

Human Molecular Genetics

Volumn 10, Issue 26, 2001, Pages 3025-3035

  Jaksch, Michaela ^a,h   Paret, Claudia ^b   Stucka, Rolf ^c   Horn, Nina ^d   Muller Höcker, Josef ^e   Horvath, Rita ^a   Trepesch, Nadine ^a   Stecker, Gerhard ^a   Freisinger, Peter ^a,f   Thirion, Christian ^c   Müller, Juliane ^c   Lunkwitz, Renate ^b   Rödel, Gerhard ^b   Shoubridge, Eric A ^g   Lochmüller, Hanns ^c  

^a Institute of Clinical Chemistry Molecular Diagnostics and Mitochondrial Genetics   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d JFK Institute   (Denmark)

^e UNIVERSITY OF MUNICH   (Germany)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g MCGILL UNIVERSITY   (Canada)

^h Metabolic Disease Center Munich Schwabing   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CHAPERONE; COPPER; COPPER 64; CYTOCHROME C OXIDASE; HISTIDINE; RECOMBINANT ENZYME; RETROVIRUS VECTOR;

AMINO ACID SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; CULTURE MEDIUM; ENCEPHALOMYOPATHY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFECT; ENZYME DEFICIENCY; ENZYME LOCALIZATION; ENZYME SUBUNIT; FIBROBLAST; GENE MUTATION; GENETIC TRANSDUCTION; HEART DISEASE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; INFANT DISEASE; METAL BINDING; MITOCHONDRION; MYOBLAST; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN MOTIF; SEQUENCE HOMOLOGY; SKELETAL MUSCLE; STOICHIOMETRY; TISSUE SPECIFICITY;

UNIDENTIFIED RETROVIRUS;

EID: 0035894664     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.26.3025     Document Type: Article

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