Leary SC - Search Results

1

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

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

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

4

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

Leary SC, Sasarman F, Nishimura T, Shoubridge EA. Leary SC, et al. Hum Mol Genet. 2009 Jun 15;18(12):2230-40. doi: 10.1093/hmg/ddp158. Epub 2009 Mar 31. Hum Mol Genet. 2009. PMID: 19336478

5

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.

6

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

7

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.

8

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. Leary SC, et al. Hum Mutat. 2013 Oct;34(10):1366-70. doi: 10.1002/humu.22385. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23878101

9

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.

Leary SC, Cobine PA, Nishimura T, Verdijk RM, de Krijger R, de Coo R, Tarnopolsky MA, Winge DR, Shoubridge EA. Leary SC, et al. Mol Biol Cell. 2013 Mar;24(6):683-91. doi: 10.1091/mbc.E12-09-0705. Epub 2013 Jan 23. Mol Biol Cell. 2013. PMID: 23345593 Free PMC article.

10

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.

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