Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Casarin, Alberto ^a   Giorgi, Gianpietro ^a   Pertegato, Vanessa ^a   Siviero, Roberta ^a   Cerqua, Cristina ^a   Doimo, Mara ^a   Basso, Giuseppe ^a   Sacconi, Sabrina ^b   Cassina, Matteo ^a   Rizzuto, Rosario ^a   Brosel, Sonja ^c   M Davidson, Mercy ^c   Dimauro, Salvatore ^c   Schon, Eric A ^c   Clementi, Maurizio ^a   Trevisson, Eva ^a   Salviati, Leonardo ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY HOSPITAL OF NICE   (France)

^c Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Bezafibrate; Copper chaperones; Copper supplementation; COX deficiency; SCO2

Indexed keywords

ADENOSINE TRIPHOSPHATE; BEZAFIBRATE; COPPER; CYTOCHROME C OXIDASE; LUCIFERASE; MITOCHONDRIAL ENZYME;

ARTICLE; CONCENTRATION RESPONSE; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DRUG MECHANISM; ENZYME ACTIVITY; HUMAN; HUMAN CELL; MUTATION; RESPIRATORY CHAIN; SPECTROPHOTOMETRY;

ADENOSINE TRIPHOSPHATE; BEZAFIBRATE; CARRIER PROTEINS; CELL LINE; CELLS, CULTURED; COPPER; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; FIBROBLASTS; HEK293 CELLS; HELA CELLS; HUMANS; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 84859858430     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-21     Document Type: Article

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