Citations for
1COX10, PINK1, TYMP
Therapeutic prospects for mitochondrial disease.
Schon EA, DiMauro S, Hirano M, Gilkerson RW.
Trends Mol Med. 16(6):268-76. 2010
2COX10, ISCU, MIR210
Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression.
Chen Z, Li Y, Zhang H, Huang P, Luthra R.
Oncogene 29(30):4362-8. doi: 10.1038/onc.2010.193. Epub 2010 May 24. 2010
3COX10, COX15
Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease.
Vitali M, Venturelli E, Galimberti D, Benerini Gatta L, Scarpini E, Finazzi D.
J Neural Transm (Vienna) 116(12):1635-41. doi: 10.1007/s00702-009-0324-8. Epub 2009 Oct 14. 2009
4COX10
Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype.
Wenz T, Diaz F, Spiegelman BM, Moraes CT.
Cell Metab. 8(3):249-5 2008
5COX10, COX10D
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
Coenen MJ, van den Heuvel LP, Ugalde C, Ten Brinke M, Nijtmans LG, Trijbels FJ, Beblo S, Maier EM, Muntau AC, Smeitink JA.
Ann Neurol 56(4):560-4. 2004
6COX10, MT-CO2
Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.
Williams SL, Valnot I, Rustin P, Taanman JW.
J Biol Chem 279(9):7462-9. Epub 2003 Nov 7. 2004
7COX10, COX10D
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA.
Hum Mol Genet 12(20):2693-702. Epub 2003 Aug 19. 2003
8BCS1L, 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
9COX10, COX10D
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A.
Hum Mol Genet 9(8):1245-9. 2000
10CDRT1, CMT1AREPC, COX10
Genomic structure and physical mapping of C17orf1 : a gene associated with the proximal element of the CMT1A-REP binary repeat.
Kennerson ML, Nassif NT, Nicholson GA.
Genomics 53 : 110-112. 1998
11CMT1A, CMT1AREPC, CMT1AREPT, COX10, PPARAL, RMSA1L, RPL9P2
Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Murakami T, Sun ZS, Lee CC, Lupski JR.
Genomics 39 : 99-103. 1997
12COX10
Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
Murakami T, Reiter LT, Lupski JR.
Genomics 42(1):161-4. 1997
13CMT1AREPC, COX10
The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR.
Hum Mol Genet 6(9):1595-603. 1997
14CDRT1, CMT1AREPC, CMT1AREPT, COX10
The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.
Kennerson ML, Nassif NT, Dawkins JL, DeKroon RM, Yang JG, Nicholson GA.
Genomics 46(1):61-9. 1997
15COX10
Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.
Glerum DM, Tzagoloff A.
Proc Natl Acad Sci U S A 91(18):8452-6. 1994
16COX10, COX11
On the functions of the yeast COX10 and COX11 gene products.
Tzagoloff A, Nobrega M, Gorman N, Sinclair P.
Biochem Mol Biol Int 31 : 593-598. 1993