Sasarman F - Search Results

1

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. Coenen MJ, et al. Among authors: sasarman f. N Engl J Med. 2004 Nov 11;351(20):2080-6. doi: 10.1056/NEJMoa041878. N Engl J Med. 2004. PMID: 15537906 Free article.

2

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.

3

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

4

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

5

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Hinttala R, Sasarman F, Nishimura T, Antonicka H, Brunel-Guitton C, Schwartzentruber J, Fahiminiya S, Majewski J, Faubert D, Ostergaard E, Smeitink JA, Shoubridge EA. Hinttala R, et al. Among authors: sasarman f. Hum Mol Genet. 2015 Jul 15;24(14):4103-13. doi: 10.1093/hmg/ddv149. Epub 2015 Apr 24. Hum Mol Genet. 2015. PMID: 25911677 Free PMC article.

6

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

7

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.

8

Radioactive labeling of mitochondrial translation products in cultured cells.

Sasarman F, Shoubridge EA. Sasarman F, et al. Methods Mol Biol. 2012;837:207-17. doi: 10.1007/978-1-61779-504-6_14. Methods Mol Biol. 2012. PMID: 22215550

9

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.

10

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.

Sasarman F, Antonicka H, Horvath R, Shoubridge EA. Sasarman F, et al. Hum Mol Genet. 2011 Dec 1;20(23):4634-43. doi: 10.1093/hmg/ddr397. Epub 2011 Sep 1. Hum Mol Genet. 2011. PMID: 21890497

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