Eric A. Shoubridge - Publications

Department of Human Genetics McGill University, Montreal, QC, Canada 
Genetics, Molecular Biology

71 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2018 Richter U, Evans ME, Clark WC, Marttinen P, Shoubridge EA, Suomalainen A, Wredenberg A, Wedell A, Pan T, Battersby BJ. RNA modification landscape of the human mitochondrial tRNA regulates protein synthesis. Nature Communications. 9: 3966. PMID 30262910 DOI: 10.1038/s41467-018-06471-z  0.96
2018 Zurita Rendón O, Shoubridge EA. LONP1 is required for maturation of a subset of mitochondrial proteins and its loss elicits an integrated stress response. Molecular and Cellular Biology. PMID 30061372 DOI: 10.1128/MCB.00412-17  0.68
2017 Straub IR, Janer A, Weraarpachai W, Zinman L, Robertson J, Rogaeva E, Shoubridge EA. Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS. Human Molecular Genetics. PMID 29121267 DOI: 10.1093/hmg/ddx393  0.4
2017 La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. Neurogenetics. PMID 28058511 DOI: 10.1007/s10048-016-0506-0  0.4
2016 Antonicka H, Choquet K, Lin ZY, Gingras AC, Kleinman CL, Shoubridge EA. A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. Embo Reports. PMID 27974379 DOI: 10.15252/embr.201643391  0.8
2016 Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA. SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. Embo Molecular Medicine. PMID 27390132 DOI: 10.15252/emmm.201506159  0.44
2016 Pupavac M, Watkins D, Petrella F, Fahiminiya S, Janer A, Cheung W, Gingras AC, Pastinen T, Muenzer J, Majewski J, Shoubridge EA, Rosenblatt DS. Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator. Human Mutation. PMID 27349184 DOI: 10.1002/humu.23037  0.44
2016 Zurita Rendón O, Antonicka H, Horvath R, Shoubridge EA. A mutation in the FAD-dependent oxidoreductase FOXRED1 results in cell-type specific assembly defects in oxidative phosphorylation complexes I and II. Molecular and Cellular Biology. PMID 27215383 DOI: 10.1128/MCB.00066-16  0.8
2015 Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain : a Journal of Neurology. PMID 26657514 DOI: 10.1093/brain/awv362  0.32
2015 Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ, Michaud JL, Majewski J. Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Human Genetics. 134: 981-91. PMID 26099313 DOI: 10.1007/s00439-015-1577-y  0.44
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  0.44
2015 Antonicka H, Shoubridge EA. Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis. Cell Reports. PMID 25683715 DOI: 10.1016/j.celrep.2015.01.030  0.8
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  0.8
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  0.44
2015 Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jønson L, Duno M, Wibrand F, Shoubridge EA, Vissing J. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. Journal of Medical Genetics. 52: 203-7. PMID 25604084 DOI: 10.1136/jmedgenet-2014-102914  0.4
2015 Paupe V, Prudent J, Dassa EP, Rendon OZ, Shoubridge EA. CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter. Cell Metabolism. 21: 109-16. PMID 25565209 DOI: 10.1016/j.cmet.2014.12.004  0.32
2015 Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B. Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. Human Molecular Genetics. 24: 727-39. PMID 25260547 DOI: 10.1093/hmg/ddu491  0.44
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  0.44
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, ... ... Shoubridge EA, 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  0.44
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  0.8
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  0.8
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  0.8
2013 Leary SC, Cobine PA, Nishimura T, Verdijk RM, de Krijger R, de Coo R, Tarnopolsky MA, Winge DR, Shoubridge EA. COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux. Molecular Biology of the Cell. 24: 683-91. PMID 23345593 DOI: 10.1091/mbc.E12-09-0705  0.44
2013 Mah W, Deme JC, Watkins D, Fung S, Janer A, Shoubridge EA, Rosenblatt DS, Coulton JW. Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. Molecular Genetics and Metabolism. 108: 112-8. PMID 23270877 DOI: 10.1016/j.ymgme.2012.11.284  0.44
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  0.8
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  0.8
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  0.8
2012 Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, ... ... Shoubridge EA, et al. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nature Genetics. 44: 1152-5. PMID 22922874 DOI: 10.1038/ng.2386  0.44
2012 Zurita Rendón O, Shoubridge EA. Early complex I assembly defects result in rapid turnover of the ND1 subunit. Human Molecular Genetics. 21: 3815-24. PMID 22653752 DOI: 10.1093/hmg/dds209  0.68
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  0.8
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, ... ... Shoubridge EA, 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  0.44
2012 Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, et al. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proceedings of the National Academy of Sciences of the United States of America. 109: 1661-6. PMID 22307627 DOI: 10.1073/pnas.1113166109  0.44
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  0.8
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  0.8
2011 Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. American Journal of Human Genetics. 89: 486-95. PMID 21944046 DOI: 10.1016/j.ajhg.2011.08.011  0.44
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  0.8
2010 Jokinen R, Marttinen P, Sandell HK, Manninen T, Teerenhovi H, Wai T, Teoli D, Loredo-Osti JC, Shoubridge EA, Battersby BJ. Gimap3 regulates tissue-specific mitochondrial DNA segregation. Plos Genetics. 6: e1001161. PMID 20976251 DOI: 10.1371/journal.pgen.1001161  0.96
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  0.44
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  0.44
2010 Wai T, Ao A, Zhang X, Cyr D, Dufort D, Shoubridge EA. The role of mitochondrial DNA copy number in mammalian fertility. Biology of Reproduction. 83: 52-62. PMID 20130269 DOI: 10.1095/biolreprod.109.080887  0.4
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  0.44
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  0.44
2008 Wai T, Teoli D, Shoubridge EA. The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes. Nature Genetics. 40: 1484-8. PMID 19029901 DOI: 10.1038/ng.258  0.4
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  0.8
2008 Shoubridge EA, Wai T. Medicine. Sidestepping mutational meltdown. Science (New York, N.Y.). 319: 914-5. PMID 18276880 DOI: 10.1126/science.1154515  0.4
2007 Kaufman BA, Durisic N, Mativetsky JM, Costantino S, Hancock MA, Grutter P, Shoubridge EA. The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures. Molecular Biology of the Cell. 18: 3225-36. PMID 17581862 DOI: 10.1091/mbc.E07-05-0404  0.44
2007 Battersby BJ, Shoubridge EA. Reactive oxygen species and the segregation of mtDNA sequence variants. Nature Genetics. 39: 571-2; author reply . PMID 17460678 DOI: 10.1038/ng0507-571  0.96
2007 Debray FG, Lambert M, Chevalier I, Robitaille Y, Decarie JC, Shoubridge EA, Robinson BH, Mitchell GA. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics. 119: 722-33. PMID 17403843 DOI: 10.1542/peds.2006-1866  0.44
2007 Shoubridge EA, Wai T. Mitochondrial DNA and the mammalian oocyte. Current Topics in Developmental Biology. 77: 87-111. PMID 17222701 DOI: 10.1016/S0070-2153(06)77004-1  0.4
2007 Leary SC, Cobine PA, Kaufman BA, Guercin GH, Mattman A, Palaty J, Lockitch G, Winge DR, Rustin P, Horvath R, Shoubridge EA. The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. Cell Metabolism. 5: 9-20. PMID 17189203 DOI: 10.1016/j.cmet.2006.12.001  0.44
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, ... Shoubridge EA, 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  0.44
2006 Leary SC, Mattman A, Wai T, Koehn DC, Clarke LA, Chan S, Lomax B, Eydoux P, Vallance HD, Shoubridge EA. A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy. Molecular Genetics and Metabolism. 89: 129-33. PMID 16765077 DOI: 10.1016/j.ymgme.2006.04.016  0.4
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  0.8
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  0.44
2006 Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, ... ... Shoubridge EA, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nature Genetics. 38: 93-100. PMID 16311595 DOI: 10.1038/ng1683  0.44
2005 Ogilvie I, Kennaway NG, Shoubridge EA. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. The Journal of Clinical Investigation. 115: 2784-92. PMID 16200211 DOI: 10.1172/JCI26020  0.68
2005 Bayona-Bafaluy MP, Blits B, Battersby BJ, Shoubridge EA, Moraes CT. Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease. Proceedings of the National Academy of Sciences of the United States of America. 102: 14392-7. PMID 16179392 DOI: 10.1073/pnas.0502896102  0.44
2005 Horng YC, Leary SC, Cobine PA, Young FB, George GN, Shoubridge EA, Winge DR. Human Sco1 and Sco2 function as copper-binding proteins. The Journal of Biological Chemistry. 280: 34113-22. PMID 16091356 DOI: 10.1074/jbc.M506801200  0.44
2005 Battersby BJ, Redpath ME, Shoubridge EA. Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides. Human Molecular Genetics. 14: 2587-94. PMID 16049030 DOI: 10.1093/hmg/ddi293  0.96
2005 Laberge AM, Jomphe M, Houde L, Vezina H, Tremblay M, Desjardins B, Labuda D, St-Hilaire M, Macmillan C, Shoubridge EA, Brais B. A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians. American Journal of Human Genetics. 77: 313-7. PMID 15954041 DOI: 10.1086/432491  0.44
2005 Anitori R, Manning K, Quan F, Weleber RG, Buist NR, Shoubridge EA, Kennaway NG. Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes. Molecular Genetics and Metabolism. 84: 176-88. PMID 15670724 DOI: 10.1016/j.ymgme.2004.10.003  0.68
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  0.44
2004 Leary SC, Kaufman BA, Pellecchia G, Guercin GH, Mattman A, Jaksch M, Shoubridge EA. Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. Human Molecular Genetics. 13: 1839-48. PMID 15229189 DOI: 10.1093/hmg/ddh197  0.32
2003 Dean NL, Battersby BJ, Ao A, Gosden RG, Tan SL, Shoubridge EA, Molnar MJ. Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases. Molecular Human Reproduction. 9: 631-8. PMID 12970401  0.96
2003 Antonicka H, Ogilvie I, Taivassalo T, Anitori RP, Haller RG, Vissing J, Kennaway NG, Shoubridge EA. Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency. The Journal of Biological Chemistry. 278: 43081-8. PMID 12941961 DOI: 10.1074/jbc.M304998200  0.8
2003 Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA. 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. Human Molecular Genetics. 12: 2693-702. PMID 12928484 DOI: 10.1093/hmg/ddg284  0.44
2003 Leary SC, Shoubridge EA. Mitochondrial biogenesis: Which part of "NO" do we understand? Bioessays. 25: 538-541. PMID 12766943 DOI: 10.1002/bies.10298  0.44
2003 Battersby BJ, Loredo-Osti JC, Shoubridge EA. Nuclear genetic control of mitochondrial DNA segregation. Nature Genetics. 33: 183-6. PMID 12539044 DOI: 10.1038/ng1073  0.96
2003 Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. American Journal of Human Genetics. 72: 101-14. PMID 12474143 DOI: 10.1086/345489  0.8
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  0.8
2001 Battersby BJ, Shoubridge EA. Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication. Human Molecular Genetics. 10: 2469-79. PMID 11709534  0.96
Show low-probability matches.