Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with...
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations
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Author / Creator
Casarin, Alberto , Giorgi, Gianpietro , Pertegato, Vanessa , Siviero, Roberta , Cerqua, Cristina , Doimo, Mara , Basso, Giuseppe , Sacconi, Sabrina , Cassina, Matteo , Rizzuto, Rosario , Brosel, Sonja , M Davidson, Mercy , Dimauro, Salvatore , Schon, Eric A , Clementi, Maurizio , Trevisson, Eva and Salviati, Leonardo
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the defect in patients' cells. Bezafibrate (BZF), an approved hypolipidemic agent, ameliorates the COX deficiency in mice with mutations in C...
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Full title
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations
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TN_cdi_doaj_primary_oai_doaj_org_article_ac915d6223bd4d07b6a01ec8d34fd9d8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ac915d6223bd4d07b6a01ec8d34fd9d8
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-7-21
