| 1 | COX20, MT-CO2, SCO1, SCO2
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| Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
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| Bourens M, Boulet A, Leary SC, Barrientos A.
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| Hum Mol Genet 23(11):2901-13. doi: 10.1093/hmg/ddu003. Epub 2014 Jan 8. 2014
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| 2 | SCO2
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| Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia.
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| Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL.
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| Am J Hum Genet 92(5):820-6. doi: 10.1016/j.ajhg.2013.04.005.
2013
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| 3 | CEML, SCO2
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| Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.
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| Gurgel-Giannetti J, Oliveira G, Brasileiro Filho G, Martins P, Vainzof M, Hirano M.
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| JAMA Neurol 70(2):258-61. doi: 10.1001/jamaneurol.2013.595. Review.
2013
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| 4 | CEML, SCO2
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| Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.
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| Sambuughin N, Liu X, Bijarnia S, Wallace T, Verma IC, Hamilton S, Muldoon S, Tallon LJ, Wang S.
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| J Hum Genet 58(4):226-8. doi: 10.1038/jhg.2012.156. Epub 2013 Jan 31.
2013
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| 5 | SCO2
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| SCO2 induces p53-mediated apoptosis by Thr845 phosphorylation of ASK-1 and dissociation of the ASK-1-Trx complex.
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| Madan E, Gogna R, Kuppusamy P, Bhatt M, Mahdi AA, Pati U.
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| Mol Cell Biol 33(7):1285-302. doi: 10.1128/MCB.06798-11. Epub 2013 Jan 14.
2013
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| 6 | SCO2, TIGAR
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| Regulatory role of p53 in cancer metabolism via SCO2 and TIGAR in human breast cancer.
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| Won KY, Lim SJ, Kim GY, Kim YW, Han SA, Song JY, Lee DK.
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| Hum Pathol 43(2):221-8. doi: 10.1016/j.humpath.2011.04.021. Epub 2011 Aug 4.
2012
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| 7 | SCO1, SCO2
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| A targetable fluorescent sensor reveals that copper-deficient SCO1 and SCO2 patient cells prioritize mitochondrial copper homeostasis.
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| Dodani SC, Leary SC, Cobine PA, Winge DR, Chang CJ.
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| J Am Chem Soc 133(22):8606-16. doi: 10.1021/ja2004158. Epub 2011 May 12.
2011
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| 8 | SCO1, SCO2
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| Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease.
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| Brosel S, Yang H, Tanji K, Bonilla E, Schon EA.
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| Am J Pathol 177(5):2541-8. doi: 10.2353/ajpath.2010.100229. Epub 2010 Sep 23.
2010
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| 9 | CEML, SCO2
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| A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.
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| Pronicki M, Kowalski P, Piekutowska-Abramczuk D, Taybert J, Karkucinska-Wieckowska A, Szymanska-Debinska T, Karczmarewicz E, Pajdowska M, Migdal M, Milewska-Bobula B, Sykut-Cegielska J, Popowska E.
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| Eur J Paediatr Neurol 14(3):253-60. doi: 10.1016/j.ejpn.2009.09.008. Epub 2009 Oct 29.
2010
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| 10 | SCO1, SCO2
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| Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
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| Leary SC, Sasarman F, Nishimura T, Shoubridge EA.
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| Hum Mol Genet 18(12):2230-40. doi: 10.1093/hmg/ddp158. Epub 2009 Mar 31.
2009
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| 11 | CEML, SCO2
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| Phenotypic consequences of a novel SCO2 gene mutation.
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| Verdijk RM, de Krijger R, Schoonderwoerd K, Tiranti V, Smeets H, Govaerts LC, de Coo R.
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| Am J Med Genet A 146A(21):2822-7.
2008
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| 12 | SCO2
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| Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.
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| Vesela K, Hulkova H, Hansikova H, Zeman J, Elleder M.
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| APMIS 116(1):41-9. doi: 10.1111/j.1600-0463.2008.00772.x.
2008
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| 13 | SCO2
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| A structural characterization of human SCO2.
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| Banci L, Bertini I, Ciofi-Baffoni S, Gerothanassis IP, Leontari I, Martinelli M, Wang S.
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| Structure 15(9):1132-40.
2007
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| 14 | SCO1,SCO2
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| Human Sco1 and Sco2 function as copper-binding proteins.
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| Horng YC, Leary SC, Cobine PA, Young FB, George GN, Shoubridge EA, Winge DR.
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| J Biol Chem 280(40):34113-22. Epub 2005 Aug 9. Erratum in: J Biol Chem. 2005 Dec 9;280(49):41122. 2005
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| 15 | SCO2, CEML
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| Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
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| Tarnopolsky MA, Bourgeois JM, Fu MH, Kataeva G, Shah J, Simon DK, Mahoney D, Johns D, MacKay N, Robinson BH.
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| Am J Med Genet 125A(3):310-4. 2004
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| 16 | SCO1, SCO2
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| Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
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| Leary SC, Kaufman BA, Pellecchia G, Guercin GH, Mattman A, Jaksch M, Shoubridge EA.
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| Hum Mol Genet 13(17):1839-48. Epub 2004 Jun 30. 2004
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| 17 | SCO2, CEML
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| Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
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| Tay SK, Shanske S, Kaplan P, DiMauro S.
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| Arch Neurol 61(6):950-2. 2004
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| 18 | SCO2, CEML
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| Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
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| Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S.
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| Arch Neurol 59(5):862-5. Erratum in: Arch Neurol. 2003 May;60(5):749. 2002
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| 19 | SCO2
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| Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.
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| Jaksch M, Paret C, Stucka R, Horn N, Muller-Hocker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Muller J, Lunkwitz R, Rodel G, Shoubridge EA, Lochmuller H.
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| Hum Mol Genet 10(26):3025-35. 2001
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| 20 | BCS1L, 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
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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| 21 | CEML, SCO2
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| Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
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| Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA.
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| Hum Mol Genet 9(5):795-801. 2000
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| 22 | SCO2, SURF1
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| Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
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| Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Pallotti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S.
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| Ann Neurol 47(5):589-95. 2000
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| 23 | SCO1, SCO2
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| Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization.
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| Paret C, et al.
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| FEBS Lett 447(1):65-70 1999
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| 24 | CEML, SCO2
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| Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
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| Papadopoulou LC, et al.
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| Nat Genet 23(3):333-7 1999
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