Leary SC - Search Results

1

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

Leary SC, Cobine PA, Kaufman BA, Guercin GH, Mattman A, Palaty J, Lockitch G, Winge DR, Rustin P, Horvath R, Shoubridge EA. Leary SC, et al. Cell Metab. 2007 Jan;5(1):9-20. doi: 10.1016/j.cmet.2006.12.001. Cell Metab. 2007. PMID: 17189203 Free article.

2

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. Antonicka H, et al. Among authors: leary sc. Am J Hum Genet. 2003 Jan;72(1):101-14. doi: 10.1086/345489. Epub 2002 Dec 9. Am J Hum Genet. 2003. PMID: 12474143 Free PMC article.

3

Mitochondrial biogenesis: which part of "NO" do we understand?

Leary SC, Shoubridge EA. Leary SC, et al. Bioessays. 2003 Jun;25(6):538-41. doi: 10.1002/bies.10298. Bioessays. 2003. PMID: 12766943 Review.

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. Antonicka H, et al. Among authors: leary sc. Hum Mol Genet. 2003 Oct 15;12(20):2693-702. doi: 10.1093/hmg/ddg284. Epub 2003 Aug 19. Hum Mol Genet. 2003. PMID: 12928484

5

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. Leary SC, et al. Hum Mol Genet. 2004 Sep 1;13(17):1839-48. doi: 10.1093/hmg/ddh197. Epub 2004 Jun 30. Hum Mol Genet. 2004. PMID: 15229189

6

Human Sco1 and Sco2 function as copper-binding proteins.

Horng YC, Leary SC, Cobine PA, Young FB, George GN, Shoubridge EA, Winge DR. Horng YC, et al. Among authors: leary sc. J Biol Chem. 2005 Oct 7;280(40):34113-22. doi: 10.1074/jbc.M506801200. Epub 2005 Aug 9. J Biol Chem. 2005. PMID: 16091356 Free article.

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. Cobine PA, et al. Among authors: leary sc. J Biol Chem. 2006 May 5;281(18):12270-6. doi: 10.1074/jbc.M600496200. Epub 2006 Mar 6. J Biol Chem. 2006. PMID: 16520371 Free article.

8

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.

Leary SC, Mattman A, Wai T, Koehn DC, Clarke LA, Chan S, Lomax B, Eydoux P, Vallance HD, Shoubridge EA. Leary SC, et al. Mol Genet Metab. 2006 Sep-Oct;89(1-2):129-33. doi: 10.1016/j.ymgme.2006.04.016. Epub 2006 Jun 9. Mol Genet Metab. 2006. PMID: 16765077

9

The Janus face of copper: its expanding roles in biology and the pathophysiology of disease. Meeting on Copper and Related Metals in Biology.

Leary SC, Winge DR. Leary SC, et al. EMBO Rep. 2007 Mar;8(3):224-7. doi: 10.1038/sj.embor.7400915. Epub 2007 Feb 16. EMBO Rep. 2007. PMID: 17304237 Free PMC article. No abstract available.

10

Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS protein.

Son M, Leary SC, Romain N, Pierrel F, Winge DR, Haller RG, Elliott JL. Son M, et al. Among authors: leary sc. J Biol Chem. 2008 May 2;283(18):12267-75. doi: 10.1074/jbc.M708523200. Epub 2008 Mar 11. J Biol Chem. 2008. PMID: 18334481 Free PMC article.

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