Gene Review:
SCO2 - SCO2 cytochrome c oxidase assembly protein
Homo sapiens
Synonyms:
CEMCOX1, MYP6, Protein SCO2 homolog, mitochondrial, SCO1L
- Mutation screening in patients with isolated cytochrome c oxidase deficiency. Sacconi, S., Salviati, L., Sue, C.M., Shanske, S., Davidson, M.M., Bonilla, E., Naini, A.B., De Vivo, D.C., DiMauro, S. Pediatr. Res. (2003)
- Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Horvath, R., Lochmüller, H., Stucka, R., Yao, J., Shoubridge, E.A., Kim, S.H., Gerbitz, K.D., Jaksch, M. Biochem. Biophys. Res. Commun. (2000)
- Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. Tarnopolsky, M.A., Bourgeois, J.M., Fu, M.H., Kataeva, G., Shah, J., Simon, D.K., Mahoney, D., Johns, D., MacKay, N., Robinson, B.H. Am. J. Med. Genet. A (2004)
- Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. Tay, S.K., Shanske, S., Kaplan, P., DiMauro, S. Arch. Neurol. (2004)
- The scoop on sco. Brière, J.J., Tzagoloff, A. Mol. Cell (2007)
- Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Jaksch, M., Paret, C., Stucka, R., Horn, N., Müller-Höcker, J., Horvath, R., Trepesch, N., Stecker, G., Freisinger, P., Thirion, C., Müller, J., Lunkwitz, R., Rödel, G., Shoubridge, E.A., Lochmüller, H. Hum. Mol. Genet. (2001)
- Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Sue, C.M., Karadimas, C., Checcarelli, N., Tanji, K., Papadopoulou, L.C., Pallotti, F., Guo, F.L., Shanske, S., Hirano, M., De Vivo, D.C., Van Coster, R., Kaplan, P., Bonilla, E., DiMauro, S. Ann. Neurol. (2000)
- Assessment of the central chemosensitivity in man under transient or progressive hypercapnia. Jammes, Y., Fornaris, M., Vanuxem, D., Grimaud, C. Arch. Int. Physiol. Biochim. (1980)
- New approaches to the treatment of mitochondrial disorders. Chinnery, P.F. Reprod. Biomed. Online (2004)
- Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. Leary, S.C., Kaufman, B.A., Pellecchia, G., Guercin, G.H., Mattman, A., Jaksch, M., Shoubridge, E.A. Hum. Mol. Genet. (2004)
- Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. Böhm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J. Pediatr. Res. (2006)
- The Human Cytochrome c Oxidase Assembly Factors SCO1 and SCO2 Have Regulatory Roles in the Maintenance of Cellular Copper Homeostasis. Leary, S.C., Cobine, P.A., Kaufman, B.A., Guercin, G.H., Mattman, A., Palaty, J., Lockitch, G., Winge, D.R., Rustin, P., Horvath, R., Shoubridge, E.A. Cell metabolism (2007)
- Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. Salviati, L., Hernandez-Rosa, E., Walker, W.F., Sacconi, S., DiMauro, S., Schon, E.A., Davidson, M.M. Biochem. J. (2002)
- Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity. Foltopoulou, P.F., Zachariadis, G.A., Politou, A.S., Tsiftsoglou, A.S., Papadopoulou, L.C. Mol. Genet. Metab. (2004)
- p53 regulates mitochondrial respiration. Matoba, S., Kang, J.G., Patino, W.D., Wragg, A., Boehm, M., Gavrilova, O., Hurley, P.J., Bunz, F., Hwang, P.M. Science (2006)
- Quantum chemical modeling of CO oxidation by the active site of molybdenum CO dehydrogenase. Siegbahn, P.E., Shestakov, A.F. Journal of computational chemistry. (2005)
- Activated carbon and tungsten oxide supported on activated carbon catalysts for toluene catalytic combustion. Alvarez-Merino, M.A., Ribeiro, M.F., Silva, J.M., Carrasco-Marín, F., Maldonado-Hódar, F.J. Environ. Sci. Technol. (2004)
- p53 aerobics: the major tumor suppressor fuels your workout. Kruse, J.P., Gu, W. Cell metabolism. (2006)
- Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Salviati, L., Sacconi, S., Rasalan, M.M., Kronn, D.F., Braun, A., Canoll, P., Davidson, M., Shanske, S., Bonilla, E., Hays, A.P., Schon, E.A., DiMauro, S. Arch. Neurol. (2002)
- Cerebral oxygenation during pediatric cardiac surgery using deep hypothermic circulatory arrest. Kurth, C.D., Steven, J.M., Nicolson, S.C. Anesthesiology (1995)
- Developmental changes of optical properties in neonates determined by near-infrared time-resolved spectroscopy. Ijichi, S., Kusaka, T., Isobe, K., Okubo, K., Kawada, K., Namba, M., Okada, H., Nishida, T., Imai, T., Itoh, S. Pediatr. Res. (2005)
- Arterial and venous contributions to near-infrared cerebral oximetry. Watzman, H.M., Kurth, C.D., Montenegro, L.M., Rome, J., Steven, J.M., Nicolson, S.C. Anesthesiology (2000)