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Items: 1 to 20 of 115

1.

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, Rötig A.

Am J Hum Genet. 2000 Nov;67(5):1104-9.

2.

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA.

Nat Genet. 1999 Nov;23(3):333-7.

PMID:
10545952
3.

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, Rötig A.

Hum Mol Genet. 2000 May 1;9(8):1245-9.

PMID:
10767350
4.

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

Horvath R, Lochmüller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M.

Biochem Biophys Res Commun. 2000 Sep 24;276(2):530-3.

PMID:
11027508
5.

Cytochrome c oxidase deficiency.

Shoubridge EA.

Am J Med Genet. 2001 Spring;106(1):46-52. Review.

PMID:
11579424
6.

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA.

Hum Mol Genet. 2000 Mar 22;9(5):795-801.

PMID:
10749987
7.

The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.

Cobine PA, Pierrel F, Leary SC, Sasarman F, Horng YC, Shoubridge EA, Winge DR.

J Biol Chem. 2006 May 5;281(18):12270-6.

8.

The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase.

Paret C, Lode A, Krause-Buchholz U, Rödel G.

Biochem Biophys Res Commun. 2000 Dec 20;279(2):341-7.

PMID:
11118289
9.

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW.

Am J Hum Genet. 1998 Jul;63(1):29-36.

10.

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. 2004 Sep 1;13(17):1839-48.

PMID:
15229189
11.

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. 2013 Oct;34(10):1366-70. doi: 10.1002/humu.22385.

PMID:
23878101
12.

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.

Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T.

Ann Neurol. 1999 Aug;46(2):161-6.

PMID:
10443880
13.

Loss of function of Sco1 and its interaction with cytochrome c oxidase.

Stiburek L, Vesela K, Hansikova H, Hulkova H, Zeman J.

Am J Physiol Cell Physiol. 2009 May;296(5):C1218-26. doi: 10.1152/ajpcell.00564.2008.

14.

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.

Edery P, Gérard B, Chretien D, Rötig A, Cerrone R, Rabier D, Rambaud C, Fabre M, Saudubray JM, Munnich A, et al.

Eur J Pediatr. 1994 Mar;153(3):190-4.

PMID:
8181505
15.

Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.

Williams JC, Sue C, Banting GS, Yang H, Glerum DM, Hendrickson WA, Schon EA.

J Biol Chem. 2005 Apr 15;280(15):15202-11.

16.

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

Rahman S, Taanman JW, Cooper JM, Nelson I, Hargreaves I, Meunier B, Hanna MG, García JJ, Capaldi RA, Lake BD, Leonard JV, Schapira AH.

Am J Hum Genet. 1999 Oct;65(4):1030-9.

17.

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ.

Am J Hum Genet. 2011 Apr 8;88(4):488-93. doi: 10.1016/j.ajhg.2011.03.002.

18.

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA.

Am J Hum Genet. 2003 Jan;72(1):101-14.

19.

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.

Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C.

Hum Mutat. 2001 May;17(5):374-81.

PMID:
11317352
20.

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. 2004 Feb 27;279(9):7462-9.

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