Citations for
1COX20, MT-CO2, SCO1, SCO2
Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
Bourens M, Boulet A, Leary SC, Barrientos A.
Hum Mol Genet 23(11):2901-13. doi: 10.1093/hmg/ddu003. Epub 2014 Jan 8. 2014
2HFND, SCO1
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.
Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA.
Hum Mutat 34(10):1366-70. doi: 10.1002/humu.22385. Epub 2013 Aug 12. 2013
3ATP7A, COX19, SCO1
COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.
Leary SC, Cobine PA, Nishimura T, Verdijk RM, de Krijger R, de Coo R, Tarnopolsky MA, Winge DR, Shoubridge EA.
Mol Biol Cell 24(6):683-91. doi: 10.1091/mbc.E12-09-0705. Epub 2013 Jan 23. 2013
4COX11, SCO1
Characterization of the peroxide sensitivity of COX-deficient yeast strains reveals unexpected relationships between COX assembly proteins.
Veniamin S, Sawatzky LG, Banting GS, Glerum DM.
Free Radic Biol Med 51(8):1589-600. doi: 10.1016/j.freeradbiomed.2011.06.024. Epub 2011 Jul 23. 2011
5SCO1, SCO2
A targetable fluorescent sensor reveals that copper-deficient SCO1 and SCO2 patient cells prioritize mitochondrial copper homeostasis.
Dodani SC, Leary SC, Cobine PA, Winge DR, Chang CJ.
J Am Chem Soc 133(22):8606-16. doi: 10.1021/ja2004158. Epub 2011 May 12. 2011
6SCO1, SCO2
Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease.
Brosel S, Yang H, Tanji K, Bonilla E, Schon EA.
Am J Pathol 177(5):2541-8. doi: 10.2353/ajpath.2010.100229. Epub 2010 Sep 23. 2010
7SCO1, SCO2
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
Leary SC, Sasarman F, Nishimura T, Shoubridge EA.
Hum Mol Genet 18(12):2230-40. doi: 10.1093/hmg/ddp158. Epub 2009 Mar 31. 2009
8MT-CO2, SCO1
Mapping the functional interaction of Sco1 and Cox2 in cytochrome oxidase biogenesis.
Rigby K, Cobine PA, Khalimonchuk O, Winge DR.
J Biol Chem 283(22):15015-22. Epub 2008 Apr 7. 2008
9SCO1, HFND
Human Sco1 functional studies and pathological implications of the P174L mutant.
Banci L, Bertini I, Ciofi-Baffoni S, Leontari I, Martinelli M, Palumaa P, Sillard R, Wang S.
Proc Natl Acad Sci U S A 104(1):15-20. Epub 2006 Dec 20. 2007
10SCO1,SCO2
Human Sco1 and Sco2 function as copper-binding proteins.
Horng YC, Leary SC, Cobine PA, Young FB, George GN, Shoubridge EA, Winge DR.
J Biol Chem 280(40):34113-22. Epub 2005 Aug 9. Erratum in: J Biol Chem. 2005 Dec 9;280(49):41122. 2005
11SCO1, SCO2
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
Leary SC, Kaufman BA, Pellecchia G, Guercin GH, Mattman A, Jaksch M, Shoubridge EA.
Hum Mol Genet 13(17):1839-48. Epub 2004 Jun 30. 2004
12BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
Nuclear genetic defects of oxidative phosphorylation.
Shoubridge EA.
Hum Mol Genet 10(20):2277-84. Review. 2001
13HFND, SCO1
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A.
Am J Hum Genet 67(5):1104-9. 2000
14COX17, COX17P, SCO1
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.
Horvath R, Lochmuller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M.
Biochem Biophys Res Commun 276(2):530-3. 2000
15SCO1, SCO2
Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization.
Paret C, et al.
FEBS Lett 447(1):65-70 1999
16BCS1L, COX11, COX11P, COX15, PET112L, SCO1
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M.
Genomics 54 : 494-504. 1998
17SCO1
Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane.
Buchwald P, Krummeck G, Rodel G.
Mol Gen Genet 229 : 413-420. 1991