| Year |
Citation |
Score |
| 2023 |
Janer A, Morris JL, Krols M, Antonicka H, Aaltonen MJ, Lin ZY, Anand H, Gingras AC, Prudent J, Shoubridge EA. ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis. Life Science Alliance. 7. PMID 37931956 DOI: 10.26508/lsa.202302335 |
0.438 |
|
| 2023 |
Schuettpelz J, Janer A, Antonicka H, Shoubridge EA. The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion. Life Science Alliance. 6. PMID 36977595 DOI: 10.26508/lsa.202301914 |
0.49 |
|
| 2023 |
Petel Légaré V, Rampal CJ, Gurberg TJN, Aaltonen MJ, Janer A, Zinman L, Shoubridge EA, Armstrong GAB. Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mitochondrial integrated stress response. Developmental Neurobiology. PMID 36799027 DOI: 10.1002/dneu.22909 |
0.52 |
|
| 2022 |
Shoubridge EA. Cutting the Gordian Knot of a Mitochondrial Disease. Med (New York, N.Y.). 2: 11-13. PMID 35590127 DOI: 10.1016/j.medj.2020.12.015 |
0.317 |
|
| 2022 |
Aaltonen MJ, Alecu I, König T, Bennett SA, Shoubridge EA. Serine palmitoyltransferase assembles at ER-mitochondria contact sites. Life Science Alliance. 5. PMID 34785538 DOI: 10.26508/lsa.202101278 |
0.451 |
|
| 2021 |
Straub IR, Weraarpachai W, Shoubridge EA. Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses. Human Molecular Genetics. 30: 687-705. PMID 33749723 DOI: 10.1093/hmg/ddab078 |
0.838 |
|
| 2020 |
Honarmand S, Shoubridge EA. Poly (A) tail length of human mitochondrial mRNAs is tissue-specific and a mutation in LRPPRC results in transcript-specific patterns of deadenylation. Molecular Genetics and Metabolism Reports. 25: 100687. PMID 33312877 DOI: 10.1016/j.ymgmr.2020.100687 |
0.47 |
|
| 2020 |
Antonicka H, Lin ZY, Janer A, Aaltonen MJ, Weraarpachai W, Gingras AC, Shoubridge EA. A High-Density Human Mitochondrial Proximity Interaction Network. Cell Metabolism. 32: 479-497.e9. PMID 32877691 DOI: 10.1016/J.Cmet.2020.07.017 |
0.842 |
|
| 2020 |
Maiti P, Antonicka H, Gingras AC, Shoubridge EA, Barrientos A. Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation. Nucleic Acids Research. PMID 32652011 DOI: 10.1093/Nar/Gkaa592 |
0.524 |
|
| 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 |
0.812 |
|
| 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 |
0.563 |
|
| 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 |
0.84 |
|
| 2017 |
Knoppers BM, Leader A, Hume S, Shoubridge EA, Isasi R, Noohi F, Ogbogu U, Ravitsky V, Kleiderman E. Mitochondrial Replacement Therapy: The Road to the Clinic in Canada. Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'Obstetrique Et Gynecologie Du Canada : Jogc. PMID 28733061 DOI: 10.1016/J.Jogc.2017.05.007 |
0.45 |
|
| 2017 |
Cuillerier A, Honarmand S, Cadete VJJ, Ruiz M, Forest A, Deschênes S, Beauchamp C, Charron G, Rioux JD, Des Rosiers C, Shoubridge EA, Burelle Y. Loss of Hepatic Lrpprc Alters Mitochondrial Bioenergetics, Regulation of Permeability Transition and Trans-Membrane Ros Diffusion. Human Molecular Genetics. PMID 28575497 DOI: 10.1093/Hmg/Ddx202 |
0.558 |
|
| 2017 |
Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, et al. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Human Mutation. PMID 28185376 DOI: 10.1002/Humu.23196 |
0.497 |
|
| 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 |
0.853 |
|
| 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 |
0.577 |
|
| 2016 |
Shoubridge EA. Biomedicine: Replacing the cell's power plants. Nature. 540: 210-211. PMID 27919076 DOI: 10.1038/Nature20483 |
0.517 |
|
| 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 |
0.601 |
|
| 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 |
0.387 |
|
| 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 |
0.453 |
|
| 2016 |
Shoubridge EA. MITOCHONDRIA. Mitochondrial disease therapy from thin air? Science (New York, N.Y.). 352: 31-2. PMID 27034357 DOI: 10.1126/Science.Aaf5248 |
0.495 |
|
| 2016 |
Lach B, Mount J, Shoubridge E, Kosabek-Williams B, Lee F, Silva V. Systemic microangiopathy in Leber's hereditary optic neuropathy with nt 13708 and nt 3394 mutations Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.338 |
0.304 |
|
| 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 |
0.494 |
|
| 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 |
0.811 |
|
| 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 |
0.422 |
|
| 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 |
0.854 |
|
| 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 |
0.828 |
|
| 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 |
0.772 |
|
| 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 |
0.544 |
|
| 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 |
0.456 |
|
| 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 |
0.822 |
|
| 2015 |
Isohanni P, Linnankivi T, Honarmand S, Lapatto R, Lönnqvist T, Shoubridge E, Wartiovaara AS. PP03.4 – 2660: Recurrent metabolic crises and mitochondrial encephalocardiomyopathy due to mutations in LRPPRC European Journal of Paediatric Neurology. 19: S37. DOI: 10.1016/S1090-3798(15)30120-3 |
0.444 |
|
| 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 |
0.805 |
|
| 2014 |
Kashani A, Thiffault I, Dilenge ME, Saint-Martin C, Guerrero K, Tran LT, Shoubridge E, van der Knaap MS, Braverman N, Bernard G. A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. Neurogenetics. 15: 161-4. PMID 24952175 DOI: 10.1007/S10048-014-0412-2 |
0.372 |
|
| 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 |
0.757 |
|
| 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 |
0.788 |
|
| 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 |
0.778 |
|
| 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 |
0.409 |
|
| 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 |
0.472 |
|
| 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 |
0.828 |
|
| 2012 |
Soubannier V, Rippstein P, Kaufman BA, Shoubridge EA, McBride HM. Reconstitution of mitochondria derived vesicle formation demonstrates selective enrichment of oxidized cargo. Plos One. 7: e52830. PMID 23300790 DOI: 10.1371/Journal.Pone.0052830 |
0.505 |
|
| 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 |
0.829 |
|
| 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 |
0.837 |
|
| 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 |
0.362 |
|
| 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 |
0.394 |
|
| 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 |
0.831 |
|
| 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 |
0.827 |
|
| 2012 |
Shoubridge EA. Supersizing the mitochondrial respiratory chain. Cell Metabolism. 15: 271-2. PMID 22405063 DOI: 10.1016/J.Cmet.2012.02.009 |
0.501 |
|
| 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 |
0.582 |
|
| 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 |
0.821 |
|
| 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 |
0.83 |
|
| 2012 |
Deal C, Desilets V, Patry L, Cavanagh-Papillon S, Majewski J, Michaud J, Shoubridge E, Samuels M. P02-50 A new cause of GH deficiency: Mutation in the nuclear encoded mitochondrial isoleucyl tRNA-synthetase (IARS2) in 3 patients with severe short stature, cataracts and peripheral neuropathy Growth Hormone & Igf Research. 22: S68. DOI: 10.1016/S1096-6374(12)60179-8 |
0.475 |
|
| 2012 |
Hinttala R, Uusimaa J, Antonicka H, Kokkonen H, Moilanen JS, Rantala H, Majamaa K, Shoubridge EA. Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders Mitochondrion. 12: 576. DOI: 10.1016/J.Mito.2012.07.066 |
0.447 |
|
| 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 |
0.524 |
|
| 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 |
0.838 |
|
| 2011 |
Jokinen⁎ R, Marttinen P, Sandell K, Manninen T, Teerenhovi H, Wai T, Teoli D, Loredo-Osti J, Shoubridge EA, Battersby BJ. Cloning a novel mitochondrial protein which regulates tissue-specific mtDNA segregation Mitochondrion. 11: 641-642. DOI: 10.1016/J.Mito.2011.03.023 |
0.788 |
|
| 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 |
0.803 |
|
| 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 |
0.858 |
|
| 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 |
0.833 |
|
| 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 |
0.535 |
|
| 2010 |
Wai T, Ao A, Zhang X, Dufort D, Cyr D, Shoubridge EA. Germline Transmission of Mitochondrial DNA in the Mouse. Biology of Reproduction. 83: 115-115. DOI: 10.1093/Biolreprod/83.S1.115 |
0.449 |
|
| 2010 |
Wai T, Shoubridge EA. Reply to “Reassessing evidence for a postnatal mitochondrial genetic bottleneck” Nature Genetics. 42: 472-473. DOI: 10.1038/Ng0610-472 |
0.505 |
|
| 2009 |
Shoubridge EA. Developmental biology: Asexual healing. Nature. 461: 354-5. PMID 19759608 DOI: 10.1038/461354A |
0.394 |
|
| 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 |
0.851 |
|
| 2009 |
Shoubridge EA. Something old, something new, something borrowed ... Cell Metabolism. 9: 307-8. PMID 19356711 DOI: 10.1016/J.Cmet.2009.03.010 |
0.546 |
|
| 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 |
0.733 |
|
| 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 |
0.504 |
|
| 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 |
0.822 |
|
| 2008 |
Shoubridge EA, Wai T. Medicine. Sidestepping mutational meltdown. Science (New York, N.Y.). 319: 914-5. PMID 18276880 DOI: 10.1126/Science.1154515 |
0.497 |
|
| 2007 |
Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. American Journal of Human Genetics. 81: 383-7. PMID 17668387 DOI: 10.1086/519222 |
0.51 |
|
| 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 |
0.45 |
|
| 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 |
0.674 |
|
| 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 |
0.4 |
|
| 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 |
0.593 |
|
| 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 |
0.434 |
|
| 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 |
0.816 |
|
| 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 (DOI:10.1016/j.cmet.2006.12.001) Cell Metabolism. 5: 403. DOI: 10.1016/J.Cmet.2007.04.002 |
0.319 |
|
| 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 |
0.844 |
|
| 2006 |
van Riesen AK, Antonicka H, Ohlenbusch A, Shoubridge EA, Wilichowski EK. Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation. Neuropediatrics. 37: 88-94. PMID 16773507 DOI: 10.1055/s-2006-924227 |
0.338 |
|
| 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 |
0.425 |
|
| 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 |
0.802 |
|
| 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 |
0.758 |
|
| 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 |
0.359 |
|
| 2006 |
Williams S, Bacman S, Bayona-Bafaluy M, Shoubridge E, Moraes C. Mitochondrial DNA heteroplasmy shift in liver and retina using a virus-delivered mitochondrially targeted restriction endonuclease Mitochondrion. 6: 24-25. DOI: 10.1016/J.Mito.2006.08.060 |
0.486 |
|
| 2006 |
Bacman SR, Williams SL, Hernandez D, Battersby BJ, Shoubridge EA, Moraes CT. Manipulating heteroplasmy by delivering restriction endonuclease to mitochondria in a “differential multiple cleavage-site” model Mitochondrion. 6: 15. DOI: 10.1016/J.Mito.2006.08.036 |
0.726 |
|
| 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 |
0.473 |
|
| 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 |
0.805 |
|
| 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 |
0.767 |
|
| 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 |
0.476 |
|
| 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 |
0.531 |
|
| 2005 |
Acton B, Battersby B, Jurisicova A, Shoubridge E, Casper R. The Effect of Mitochondrial Heteroplasmy on Murine Physiology Fertility and Sterility. 84: S32. DOI: 10.1016/j.fertnstert.2005.07.075 |
0.474 |
|
| 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 |
0.83 |
|
| 2004 |
Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. Journal of Medical Genetics. 41: 540-4. PMID 15235026 DOI: 10.1136/Jmg.2003.017426 |
0.517 |
|
| 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 |
0.487 |
|
| 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 DOI: 10.1093/Molehr/Gag077 |
0.74 |
|
| 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 |
0.48 |
|
| 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 |
0.539 |
|
| 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 |
0.53 |
|
| 2003 |
Jiang N, Bénard CY, Kébir H, Shoubridge EA, Hekimi S. Human CLK2 links cell cycle progression, apoptosis, and telomere length regulation. The Journal of Biological Chemistry. 278: 21678-84. PMID 12670948 DOI: 10.1074/Jbc.M300286200 |
0.358 |
|
| 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 |
0.789 |
|
| 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 |
0.575 |
|
| 2002 |
Shoubridge EA. The ABCs of mitochondrial transcription. Nature Genetics. 31: 227-8. PMID 12089513 DOI: 10.1038/Ng0702-227 |
0.542 |
|
| 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 |
0.813 |
|
| 2002 |
Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Human Molecular Genetics. 10: 3025-35. PMID 11751685 DOI: 10.1093/Hmg/10.26.3025 |
0.422 |
|
| 2002 |
Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Human Molecular Genetics. 10: 2277-84. PMID 11673411 DOI: 10.1093/Hmg/10.20.2277 |
0.496 |
|
| 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 DOI: 10.1093/Hmg/10.22.2469 |
0.74 |
|
| 2001 |
Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology. 57: 1440-6. PMID 11673586 DOI: 10.1212/Wnl.57.8.1440 |
0.359 |
|
| 2001 |
Shoubridge EA. Nuclear gene defects in respiratory chain disorders. Seminars in Neurology. 21: 261-7. PMID 11641816 DOI: 10.1055/S-2001-17943 |
0.536 |
|
| 2001 |
Levavasseur F, Miyadera H, Sirois J, Tremblay ML, Kita K, Shoubridge E, Hekimi S. Ubiquinone is necessary for mouse embryonic development but is not essential for mitochondrial respiration. The Journal of Biological Chemistry. 276: 46160-4. PMID 11585841 DOI: 10.1074/Jbc.M108980200 |
0.555 |
|
| 2001 |
Shoubridge EA. Cytochrome c oxidase deficiency. American Journal of Medical Genetics. 106: 46-52. PMID 11579424 DOI: 10.1002/Ajmg.1378 |
0.543 |
|
| 2001 |
Taivassalo T, Shoubridge EA, Chen J, Kennaway NG, DiMauro S, Arnold DL, Haller RG. Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. Annals of Neurology. 50: 133-41. PMID 11506394 DOI: 10.1002/Ana.1050 |
0.525 |
|
| 2001 |
Marrie RA, Shoubridge EA, Antel JP, Arnold DL, Chen J, Andermann E, Andermann F. Unusual imaging findings in progressive myoclonus epilepsy Epilepsia. 42: 430-432. PMID 11442164 DOI: 10.1046/J.1528-1157.2001.15800.X |
0.374 |
|
| 2001 |
Jiang N, Levavasseur F, McCright B, Shoubridge EA, Hekimi S. Mouse CLK-1 is imported into mitochondria by an unusual process that requires a leader sequence but no membrane potential. The Journal of Biological Chemistry. 276: 29218-25. PMID 11387338 DOI: 10.1074/Jbc.M103686200 |
0.554 |
|
| 2001 |
Von Kleist-Retzow JC, Yao J, Taanman JW, Chantrel K, Chretien D, Cormier-Daire V, Rotig A, Munnich A, Rustin P, Shoubridge EA. Mutations in SURF1 are not specifically associated with Leigh syndrome. Journal of Medical Genetics. 38: 109-13. PMID 11288709 DOI: 10.1136/Jmg.38.2.109 |
0.56 |
|
| 2001 |
Shoubridge EA. Mitochondrial DNA segregation in the developing embryo. Human Reproduction (Oxford, England). 229-34. PMID 11041528 DOI: 10.1093/Humrep/15.Suppl_2.229 |
0.538 |
|
| 2000 |
Horvath R, Lochmüller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochemical and Biophysical Research Communications. 276: 530-3. PMID 11027508 DOI: 10.1006/Bbrc.2000.3495 |
0.497 |
|
| 2000 |
Shoubridge EA. A debut for mito-mouse. Nature Genetics. 26: 132-4. PMID 11017060 DOI: 10.1038/79832 |
0.504 |
|
| 2000 |
Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Human Molecular Genetics. 9: 795-801. PMID 10749987 DOI: 10.1093/Hmg/9.5.795 |
0.478 |
|
| 2000 |
Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Human Genetics. 106: 194-205. PMID 10746561 DOI: 10.1007/S004390051028 |
0.522 |
|
| 2000 |
Macmillan C, Johns TA, Fu K, Shoubridge EA. Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect. American Journal of Human Genetics. 66: 332-5. PMID 10631164 DOI: 10.1086/302716 |
0.364 |
|
| 2000 |
Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Human Molecular Genetics. 8: 2541-9. PMID 10556303 DOI: 10.1093/Hmg/8.13.2541 |
0.508 |
|
| 2000 |
Poyau A, Buchet K, Fouad Bouzidi M, Zabot M, Echenne B, Yao J, Shoubridge E, Godinot C. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients Human Genetics. 106: 194-205. DOI: 10.1007/s004399900230 |
0.306 |
|
| 2000 |
Dubeau F, De Stefano N, Zifkin BG, Arnold DL, Shoubridge EA. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree Annals of Neurology. 47: 179-185. DOI: 10.1002/1531-8249(200002)47:2<179::Aid-Ana7>3.0.Co;2-Z |
0.558 |
|
| 1999 |
Pari G, Crerar MM, Nalbantoglu J, Shoubridge E, Jani A, Tsujino S, Shanske S, DiMauro S, Howell JM, Karpati G. Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro Neurology. 53: 1352-1354. PMID 10522901 DOI: 10.1212/Wnl.53.6.1352 |
0.321 |
|
| 1999 |
Taivassalo T, Fu K, Johns T, Arnold D, Karpati G, Shoubridge EA. Gene shifting: a novel therapy for mitochondrial myopathy. Human Molecular Genetics. 8: 1047-52. PMID 10332036 DOI: 10.1093/Hmg/8.6.1047 |
0.499 |
|
| 1999 |
Raha S, Merante F, Shoubridge E, Myint AT, Tein I, Benson L, Johns T, Robinson BH. Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction. Human Mutation. 13: 245-54. PMID 10090480 DOI: 10.1002/(Sici)1098-1004(1999)13:3<245::Aid-Humu9>3.0.Co;2-B |
0.595 |
|
| 1999 |
Shoubridge EA. Mitochondrial encephalomyopathies. Current Opinion in Neurology. 11: 491-6. PMID 9847999 DOI: 10.1097/00019052-199810000-00012 |
0.509 |
|
| 1998 |
Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genetics. 20: 337-43. PMID 9843204 DOI: 10.1038/3804 |
0.367 |
|
| 1998 |
Horvath R, Fu K, Johns T, Genge A, Karpati G, Shoubridge EA. Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis. Journal of Neuropathology and Experimental Neurology. 57: 396-403. PMID 9596410 DOI: 10.1097/00005072-199805000-00003 |
0.499 |
|
| 1998 |
Macmillan C, Kirkham T, Fu K, Allison V, Andermann E, Chitayat D, Fortier D, Gans M, Hare H, Quercia N, Zackon D, Shoubridge EA. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy. Neurology. 50: 417-22. PMID 9484365 DOI: 10.1212/Wnl.50.2.417 |
0.316 |
|
| 1998 |
Shoubridge EA, Johns T, Karpati G. Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. Human Molecular Genetics. 6: 2239-42. PMID 9361028 DOI: 10.1093/Hmg/6.13.2239 |
0.473 |
|
| 1997 |
Jenuth JP, Peterson AC, Shoubridge EA. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nature Genetics. 16: 93-5. PMID 9140402 DOI: 10.1038/Ng0597-93 |
0.482 |
|
| 1997 |
Grossman LI, Shoubridge EA. Mitochondrial genetics and human disease. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 18: 983-91. PMID 8976155 DOI: 10.1002/Bies.950181208 |
0.572 |
|
| 1997 |
Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Human Molecular Genetics. 5: 1835-40. PMID 8923013 DOI: 10.1093/Hmg/5.11.1835 |
0.53 |
|
| 1996 |
Shoubridge EA, Johns T, Boulet L. Use of myoblast cultures to study mitochondrial myopathies. Methods in Enzymology. 264: 465-75. PMID 8965719 DOI: 10.1016/S0076-6879(96)64042-7 |
0.537 |
|
| 1996 |
Jenuth JP, Peterson AC, Fu K, Shoubridge EA. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nature Genetics. 14: 146-51. PMID 8841183 DOI: 10.1038/Ng1096-146 |
0.545 |
|
| 1996 |
Macmillan CJ, Shoubridge EA. Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation. Pediatric Neurology. 14: 203-10. PMID 8736403 DOI: 10.1016/0887-8994(96)00018-5 |
0.474 |
|
| 1995 |
Johnston W, Karpati G, Carpenter S, Arnold D, Shoubridge EA. Late-onset mitochondrial myopathy. Annals of Neurology. 37: 16-23. PMID 7818252 DOI: 10.1002/Ana.410370106 |
0.516 |
|
| 1995 |
Genge A, Karpati G, Arnold D, Shoubridge EA, Carpenter S. Familial myopathy with conspicuous depletion of mitochondria in muscle fibers: a morphologically distinct disease. Neuromuscular Disorders : Nmd. 5: 139-44. PMID 7767093 DOI: 10.1016/0960-8966(94)00039-C |
0.455 |
|
| 1995 |
Shoubridge EA. Segregation of mitochondrial DNAs carrying a pathogenic point mutation (tRNA(leu3243)) in cybrid cells. Biochemical and Biophysical Research Communications. 213: 189-95. PMID 7639735 DOI: 10.1006/Bbrc.1995.2115 |
0.525 |
|
| 1994 |
Shoubridge EA. Mitochondrial DNA diseases: histological and cellular studies. Journal of Bioenergetics and Biomembranes. 26: 301-10. PMID 8077183 DOI: 10.1007/Bf00763101 |
0.616 |
|
| 1993 |
Macmillan C, Lach B, Shoubridge EA. Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology. 43: 1586-90. PMID 8351017 DOI: 10.1212/Wnl.43.8.1586 |
0.522 |
|
| 1993 |
Lach B, Mount J, Shoubridge EA, Kosabek-Williams R, Lee FJ, DaSilva VF. MICROANGIOPATHY IN LEBERʼS HEREDITARY OPTIC ATROPHY WITH 13708 AND 3394 aDNA POINT MUTATIONS Journal of Neuropathology and Experimental Neurology. 52: 308. DOI: 10.1097/00005072-199305000-00192 |
0.317 |
|
| 1991 |
Matthews PM, Allaire C, Shoubridge EA, Karpati G, Carpenter S, Arnold DL. In vivo muscle magnetic resonance spectroscopy in the clinical investigation of mitochondrial disease. Neurology. 41: 114-20. PMID 1985275 DOI: 10.1212/Wnl.41.1.114 |
0.428 |
|
| 1991 |
Matthews PM, Berkovic SF, Shoubridge EA, Andermann F, Karpati G, Carpenter S, Arnold DL. In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalomyopathy (MERRF). Annals of Neurology. 29: 435-8. PMID 1929212 DOI: 10.1002/Ana.410290416 |
0.33 |
|
| 1991 |
Berkovic SF, Shoubridge EA, Andermann F, Andermann E, Carpenter S, Karpati G. Clinical spectrum of mitochondrial DNA mutation at base pair 8344. Lancet (London, England). 338: 457. PMID 1678125 DOI: 10.1016/0140-6736(91)91090-H |
0.51 |
|
| 1991 |
Berkovic SF, Andermann F, Shoubridge EA, Carpenter S, Robitaille Y, Andermann E, Melmed C, Karpati G. Mitochondrial dysfunction in multiple symmetrical lipomatosis. Annals of Neurology. 29: 566-9. PMID 1650162 DOI: 10.1002/Ana.410290519 |
0.549 |
|
| 1990 |
Shoubridge EA, Karpati G, Hastings KE. Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease. Cell. 62: 43-9. PMID 2163769 DOI: 10.1016/0092-8674(90)90238-A |
0.532 |
|
| 1989 |
Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, Meyer E, Tyler JL, Diksic M, Arnold D, Wolfe LS, Andermann E, Hakim AM. Myoclonus epilepsy and ragged-red fibres (MERRF): 1. A clinical, pathological, biochemical, MAGNETIC resonance SPECTROGRAPHIC and POSITRON emission TOMOGRAPHIC study Brain. 112: 1231-1260. PMID 2508988 DOI: 10.1093/Brain/112.5.1231 |
0.407 |
|
| 1985 |
Byrne E, Hayes DJ, Shoubridge EA, Morgan-Hughes JA, Clark JB. Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the mitochondrial uncoupling agent 2,4-dinitrophenol. The Biochemical Journal. 229: 101-8. PMID 4038252 DOI: 10.1042/bj2290101 |
0.372 |
|
| 1980 |
Shoubridge EA, Hochachka PW. Ethanol: novel end product of vertebrate anaerobic metabolism. Science (New York, N.Y.). 209: 308-9. PMID 7384807 DOI: 10.1126/Science.7384807 |
0.472 |
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