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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. Among authors: sasarman f. 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
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. Among authors: sasarman f. Hum Mutat. 2013 Oct;34(10):1366-70. doi: 10.1002/humu.22385. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23878101
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: sasarman f. 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
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown GK, Brown RM, Majewski J, Shoubridge EA. Janer A, et al. Among authors: sasarman f. Am J Hum Genet. 2012 Oct 5;91(4):737-43. doi: 10.1016/j.ajhg.2012.08.020. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022098 Free PMC article.
Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Auré K, Rötig A, Lombès A, Shoubridge EA. Weraarpachai W, et al. Among authors: sasarman f. Am J Hum Genet. 2012 Jan 13;90(1):142-51. doi: 10.1016/j.ajhg.2011.11.027. Am J Hum Genet. 2012. PMID: 22243966 Free PMC article.
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA. Antonicka H, et al. Among authors: sasarman f. Am J Hum Genet. 2010 Jul 9;87(1):115-22. doi: 10.1016/j.ajhg.2010.06.004. Am J Hum Genet. 2010. PMID: 20598281 Free PMC article.
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.
Sasarman F, Antonicka H, Shoubridge EA. Sasarman F, et al. Hum Mol Genet. 2008 Dec 1;17(23):3697-707. doi: 10.1093/hmg/ddn265. Epub 2008 Aug 27. Hum Mol Genet. 2008. PMID: 18753147
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA. Smeitink JA, et al. Among authors: sasarman f. Am J Hum Genet. 2006 Nov;79(5):869-77. doi: 10.1086/508434. Epub 2006 Sep 15. Am J Hum Genet. 2006. PMID: 17033963 Free PMC article.
Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy.
Sasarman F, Karpati G, Shoubridge EA. Sasarman F, et al. Hum Mol Genet. 2002 Jul 1;11(14):1669-81. doi: 10.1093/hmg/11.14.1669. Hum Mol Genet. 2002. PMID: 12075011
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA. Antonicka H, et al. Among authors: sasarman f. Hum Mol Genet. 2006 Jun 1;15(11):1835-46. doi: 10.1093/hmg/ddl106. Epub 2006 Apr 21. Hum Mol Genet. 2006. PMID: 16632485
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