Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 412

1.

Cytochrome c oxidase deficiency.

Shoubridge EA.

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

PMID:
11579424
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.

Human cytochrome oxidase deficiency.

Robinson BH.

Pediatr Res. 2000 Nov;48(5):581-5. Review.

PMID:
11044474
4.

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. 2003 Oct 15;12(20):2693-702.

PMID:
12928484
5.

Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.

Darin N, Moslemi AR, Lebon S, Rustin P, Holme E, Oldfors A, Tulinius M.

Neuropediatrics. 2003 Dec;34(6):311-7. Review.

PMID:
14681757
6.

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C.

Hum Genet. 2000 Feb;106(2):194-205.

PMID:
10746561
7.

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.

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.

Ann Neurol. 2000 May;47(5):589-95.

PMID:
10805329
8.

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms.

Rahman S, Lake BD, Taanman JW, Hanna MG, Cooper JM, Schapira AH, Leonard JV.

Brain. 2000 Mar;123 Pt 3:591-600.

PMID:
10686181
9.

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.

10.

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
11.

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
12.

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 EA, Lochmüller H.

Hum Mol Genet. 2001 Dec 15;10(26):3025-35.

PMID:
11751685
13.

Mitochondrial cytopathies and neuromuscular disorders.

Van Coster R, De Meirleir L.

Acta Neurol Belg. 2000 Sep;100(3):156-61. Review.

PMID:
11098288
14.
15.

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
16.

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA.

Nat Genet. 1998 Dec;20(4):337-43.

PMID:
9843204
17.

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.

Parfait B, Percheron A, Chretien D, Rustin P, Munnich A, Rötig A.

Hum Genet. 1997 Dec;101(2):247-50.

PMID:
9402980
18.

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
19.

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.

Vesela K, Hansikova H, Tesarova M, Martasek P, Elleder M, Houstek J, Zeman J.

Acta Paediatr. 2004 Oct;93(10):1312-7.

PMID:
15499950
20.

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y.

Hum Genet. 1999 Dec;105(6):560-3.

PMID:
10647889

Supplemental Content

Support Center