| Year |
Citation |
Score |
| 2016 |
Sasarman F, Maftei C, Campeau PM, Brunel-Guitton C, Mitchell GA, Allard P. Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests. Journal of Inherited Metabolic Disease. 39: 173-88. PMID 26689402 DOI: 10.1007/S10545-015-9903-Z |
0.366 |
|
| 2015 |
Meijer IA, Sasarman F, Maftei C, Rossignol E, Vanasse M, Major P, Mitchell GA, Brunel-Guitton C. LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy. Molecular Genetics and Metabolism Reports. 5: 85-88. PMID 28649549 DOI: 10.1016/J.Ymgmr.2015.10.010 |
0.381 |
|
| 2015 |
Brunel-Guitton C, Levtova A, Sasarman F. Mitochondrial Diseases and Cardiomyopathies. The Canadian Journal of Cardiology. 31: 1360-76. PMID 26518446 DOI: 10.1016/J.Cjca.2015.08.017 |
0.552 |
|
| 2015 |
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. An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase. Human Molecular Genetics. 24: 4103-13. PMID 25911677 DOI: 10.1093/Hmg/Ddv149 |
0.754 |
|
| 2015 |
Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. Human Molecular Genetics. 24: 2841-7. PMID 25652405 DOI: 10.1093/Hmg/Ddv044 |
0.825 |
|
| 2015 |
Janer A, van Karnebeek CD, Sasarman F, Antonicka H, Al Ghamdi M, Shyr C, Dunbar M, Stockler-Ispiroglu S, Ross CJ, Vallance H, Dionne J, Wasserman WW, Shoubridge EA. RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. European Journal of Human Genetics : Ejhg. PMID 25604853 DOI: 10.1038/Ejhg.2014.293 |
0.778 |
|
| 2015 |
Sasarman F, Nishimura T, Antonicka H, Weraarpachai W, Shoubridge EA, Allen B, Burelle Y, Charron G, Coderre L, DesRosiers C, Laprise C, Morin C, Rioux J. Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome Human Molecular Genetics. 24: 480-491. PMID 25214534 DOI: 10.1093/Hmg/Ddu468 |
0.794 |
|
| 2014 |
Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Thiffaut I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ, Michaud J, et al. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Human Mutation. 35: 1285-9. PMID 25130867 DOI: 10.1002/Humu.22629 |
0.722 |
|
| 2014 |
Zurita Rendón O, Silva Neiva L, Sasarman F, Shoubridge EA. The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis. Human Molecular Genetics. 23: 5159-70. PMID 24838397 DOI: 10.1093/Hmg/Ddu239 |
0.673 |
|
| 2013 |
Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA. Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis. Human Mutation. 34: 1366-70. PMID 23878101 DOI: 10.1002/Humu.22385 |
0.754 |
|
| 2013 |
Antonicka H, Sasarman F, Nishimura T, Paupe V, Shoubridge EA. The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression. Cell Metabolism. 17: 386-98. PMID 23473033 DOI: 10.1016/J.Cmet.2013.02.006 |
0.692 |
|
| 2013 |
Fung S, Nishimura T, Sasarman F, Shoubridge EA. The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation. Molecular Biology of the Cell. 24: 184-93. PMID 23171548 DOI: 10.1091/Mbc.E12-09-0651 |
0.769 |
|
| 2012 |
Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. Cell. 151: 1528-41. PMID 23260140 DOI: 10.1016/J.Cell.2012.11.053 |
0.802 |
|
| 2012 |
Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown GK, Brown RM, Majewski J, Shoubridge EA. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. American Journal of Human Genetics. 91: 737-43. PMID 23022098 DOI: 10.1016/J.Ajhg.2012.08.020 |
0.795 |
|
| 2012 |
Sasarman F, Nishimura T, Thiffault I, Shoubridge EA. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. Human Mutation. 33: 1201-6. PMID 22504945 DOI: 10.1002/Humu.22098 |
0.776 |
|
| 2012 |
Bayat V, Thiffault I, Jaiswal M, Tétreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, et al. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. Plos Biology. 10: e1001288. PMID 22448145 DOI: 10.1371/Journal.Pbio.1001288 |
0.759 |
|
| 2012 |
Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Auré K, Rötig A, Lombès A, Shoubridge EA. Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. American Journal of Human Genetics. 90: 142-51. PMID 22243966 DOI: 10.1016/J.Ajhg.2011.11.027 |
0.799 |
|
| 2012 |
Sasarman F, Shoubridge EA. Radioactive labeling of mitochondrial translation products in cultured cells. Methods in Molecular Biology (Clifton, N.J.). 837: 207-17. PMID 22215550 DOI: 10.1007/978-1-61779-504-6_14 |
0.767 |
|
| 2011 |
Sasarman F, Antonicka H, Horvath R, Shoubridge EA. The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation. Human Molecular Genetics. 20: 4634-43. PMID 21890497 DOI: 10.1093/Hmg/Ddr397 |
0.788 |
|
| 2010 |
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. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. American Journal of Human Genetics. 87: 115-22. PMID 20598281 DOI: 10.1016/J.Ajhg.2010.06.004 |
0.831 |
|
| 2010 |
Sasarman F, Brunel-Guitton C, Antonicka H, Wai T, Shoubridge EA, Allen B, Burelle Y, Charron G, Coderre L, DesRosiers C, Laprise C, Morin C, Rioux J. LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria Molecular Biology of the Cell. 21: 1315-1323. PMID 20200222 DOI: 10.1091/Mbc.E10-01-0047 |
0.788 |
|
| 2009 |
Leary SC, Sasarman F. Oxidative phosphorylation: synthesis of mitochondrially encoded proteins and assembly of individual structural subunits into functional holoenzyme complexes Methods in Molecular Biology (Clifton, N.J.). 554: 143-162. PMID 19513673 DOI: 10.1007/978-1-59745-521-3_10 |
0.6 |
|
| 2009 |
Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmüller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nature Genetics. 41: 833-7. PMID 19503089 DOI: 10.1038/Ng.390 |
0.823 |
|
| 2009 |
Leary SC, Sasarman F, Nishimura T, Shoubridge EA. Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1 Human Molecular Genetics. 18: 2230-2240. PMID 19336478 DOI: 10.1093/Hmg/Ddp158 |
0.619 |
|
| 2008 |
Sasarman F, Antonicka H, Shoubridge EA. 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. Human Molecular Genetics. 17: 3697-707. PMID 18753147 DOI: 10.1093/Hmg/Ddn265 |
0.769 |
|
| 2007 |
Shoubridge EA, Sasarman F. 27 Mitochondrial Translation and Human Disease Cold Spring Harbor Monograph Archive. 48: 775-801. DOI: 10.1101/087969767.48.775 |
0.742 |
|
| 2006 |
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, et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. American Journal of Human Genetics. 79: 869-77. PMID 17033963 DOI: 10.1086/508434 |
0.796 |
|
| 2006 |
Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Human Molecular Genetics. 15: 1835-46. PMID 16632485 DOI: 10.1093/Hmg/Ddl106 |
0.738 |
|
| 2006 |
Cobine PA, Pierrel F, Leary SC, Sasarman F, Horng YC, Shoubridge EA, Winge DR. The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding Journal of Biological Chemistry. 281: 12270-12276. PMID 16520371 DOI: 10.1074/Jbc.M600496200 |
0.655 |
|
| 2004 |
Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. The New England Journal of Medicine. 351: 2080-6. PMID 15537906 DOI: 10.1056/Nejmoa041878 |
0.774 |
|
| 2002 |
Sasarman F, Karpati G, Shoubridge EA. Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy. Human Molecular Genetics. 11: 1669-81. PMID 12075011 DOI: 10.1093/Hmg/11.14.1669 |
0.744 |
|
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