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Eric Shoubridge

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Hana Antonicka; Tamiko Nishimura; Vincent Paupe; Florin Sasarman; Eric A Shoubridge
The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.
Scot C Leary; Tamiko Nishimura; Paul A Cobine; René de Coo; Ronald de Krijger; Mark A Tarnopolsky; Robert M Verdijk; Dennis R Winge; Eric A Shoubridge
COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.
Wayne Mah; David S Rosenblatt; Eric A Shoubridge; David Watkins; Justin C Deme; Stephen Fung; Alexandre Janer; James W Coulton
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

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All Publications

2013: Hana Antonicka; Tamiko Nishimura; Vincent Paupe; Florin Sasarman; Eric A Shoubridge
The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.
Cell metabolism 2013;17(3):386-98.
2013: Scot C Leary; Tamiko Nishimura; Paul A Cobine; René de Coo; Ronald de Krijger; Mark A Tarnopolsky; Robert M Verdijk; Dennis R Winge; Eric A Shoubridge
COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.
Molecular biology of the cell 2013;24(6):683-91.
2013: Wayne Mah; David S Rosenblatt; Eric A Shoubridge; David Watkins; Justin C Deme; Stephen Fung; Alexandre Janer; James W Coulton
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
Molecular genetics and metabolism 2013;108(2):112-8.
2013: Stephen Fung; Tamiko Nishimura; Florin Sasarman; Eric A Shoubridge
The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.
Molecular biology of the cell 2013;24(3):184-93.
2012: David U Mick; David Pacheu-Grau; Sven Dennerlein; Isotta Lorenzi; Robert Reinhold; Florin Sasarman; Eric A Shoubridge; Bettina Warscheid; Woranontee Weraarpachai; Heike Wiese; Peter Rehling
MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.
Cell 2012;151(7):1528-41.
2012: Alexandre Janer; Emilie Lalonde; Jacek Majewski; Tamiko Nishimura; Florin Sasarman; Hana Antonicka; Garry K Brown; Ruth M Brown; Eric A Shoubridge
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
American journal of human genetics 2012;91(4):737-43.
2012: David Coelho; Marcel du Moulin; Brian Fowler; Michele Frapolli; Stephen Fung; Wolfgang Höhne; Jaeseung C Kim; Nicola Longo; Jacek Majewski; Eugen Mengel; Isabelle R Miousse; Peter Nürnberg; Marzia Pasquali; Horst Robenek; David S Rosenblatt; Frank Rutsch; Eric A Shoubridge; Martin Stucki; Terttu Suormala; Holger Thiele; David Watkins; Insa Buers; Patricie Burda; Matthias R Baumgartner
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Nature genetics 2012;44(10):1152-5.
2012: Olga Zurita Rendón; Eric A Shoubridge
Early complex I assembly defects result in rapid turnover of the ND1 subunit.
Human molecular genetics 2012;21(17):3815-24.
2012: Florin Sasarman; Tamiko Nishimura; Isabelle Thiffault; Eric A Shoubridge
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
Human mutation 2012;33(8):1201-6.
2012: Eric A Shoubridge
Supersizing the mitochondrial respiratory chain.
Cell metabolism 2012;15(3):271-2.
2012: Martine Girard; Roxanne Larivière; R Anne McKinney; Francois Blondeau; Bernard Brais; J Paul Chapple; Emily C Deane; Michael R Duchen; Rebecca Gaudet; Kalle Gehring; Nadya Nossova; David A Parfitt; George Prenosil; Andrea Richter; Eric A Shoubridge; Esmeralda G M Vermeulen; Peter S McPherson
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 2012;109(5):1661-6.
2012: Woranontee Weraarpachai; Hana Antonicka; Karine Auré; Anne Lombès; Tamiko Nishimura; Agnès Rötig; Florin Sasarman; Eric A Shoubridge
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 2012;90(1):142-51.
2012: Vincent Soubannier; Brett A Kaufman; Peter Rippstein; Eric A Shoubridge; Heidi McBride
Reconstitution of mitochondria derived vesicle formation demonstrates selective enrichment of oxidized cargo.
PloS one 2012;7(12):e52830.
2012: Vafa Bayat; Geneviève Bernard; Jean-Pierre Bouchard; Bernard Brais; Julie Demers-Lamarche; Marie-Josée Dicaire; Taraka Donti; Brett H Graham; Claire Haueter; Manish Jaiswal; Zhihong Li; Charles M Lourenco; Jean Mathieu; Marie-France Rioux; Florin Sasarman; Eric A Shoubridge; M Tétreault; Isabelle Thiffault; Michel Vanasse; Hugo J Bellen
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
PLoS biology 2012;10(3):e1001288.
2011: Florin Sasarman; Hana Antonicka; Rita Horvath; Eric A Shoubridge
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
Human molecular genetics 2011;20(23):4634-43.
2011: Jessie M Cameron; Alexandre Janer; Valeriy Levandovskiy; Nevena Mackay; Isla Ogilvie; Tracey A Rouault; Eric A Shoubridge; Wing-Hang Tong; Brian H Robinson
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 2011;89(4):486-95.
2010: Riikka Jokinen; Pekka Marttinen; Helen Katarin Sandell; Tuula Manninen; Heli Teerenhovi; Timothy Wai; Daniella Teoli; J C Loredo-Osti; Eric A Shoubridge; Brendan J Battersby
Gimap3 regulates tissue-specific mitochondrial DNA segregation.
PLoS genetics 2010;6(10):e1001161.
2010: Hana Antonicka; Elsebet Ostergaard; Florin Sasarman; Woranontee Weraarpachai; Flemming Wibrand; Anne Marie B Pedersen; Richard J T Rodenburg; Marjo S van der Knaap; Jan A M Smeitink; Zofia M Chrzanowska-Lightowlers; Eric A Shoubridge
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
American journal of human genetics 2010;87(1):115-22.
2010: Timothy Wai; Asangla Ao; Xiaoyun Zhang; Daniel Cyr; Daniel Dufort; Eric A Shoubridge
The role of mitochondrial DNA copy number in mammalian fertility.
Biology of reproduction 2010;83(1):52-62.
2010: Florin Sasarman; Catherine Brunel-Guitton; Hana Antonicka; Timothy Wai; Eric A Shoubridge
LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.
Molecular biology of the cell 2010;21(8):1315-23.
2009: Eric A Shoubridge
Developmental biology: Asexual healing.
Nature 2009;461(7262):354-5.
2009: Woranontee Weraarpachai; Hana Antonicka; Florin Sasarman; Jürgen Seeger; Bertold Schrank; Jill E Kolesar; Hanns Lochmüller; Mario Chevrette; Brett A Kaufman; Rita Horvath; Eric A Shoubridge
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
Nature genetics 2009;41(7):833-7.
2009: Scot C Leary; Florin Sasarman; Tamiko Nishimura; Eric A Shoubridge
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
Human molecular genetics 2009;18(12):2230-40.
2009: Eric A Shoubridge
Something old, something new, something borrowed ...
Cell metabolism 2009;9(4):307-8.
2008: Timothy Wai; Daniella Teoli; Eric A Shoubridge
The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes.
Nature genetics 2008;40(12):1484-8.
2008: Florin Sasarman; Hana Antonicka; Eric A Shoubridge
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 2008;17(23):3697-707.
2008: Eric A Shoubridge; Timothy Wai
Medicine. Sidestepping mutational meltdown.
Science (New York, N.Y.) 2008;319(5865):914-5.
2007: Brett A Kaufman; Nela Durisic; Jeffrey M Mativetsky; Santiago Costantino; Mark A Hancock; Peter Grutter; Eric A Shoubridge
The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures.
Molecular biology of the cell 2007;18(9):3225-36.
2007: Elsebet Ostergaard; Ernst Christensen; Elisabeth Kristensen; Bodil Mogensen; Morten Duno; Eric A Shoubridge; Flemming Wibrand
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.
American journal of human genetics 2007;81(2):383-7.
2007: Brendan J Battersby; Eric A Shoubridge
Reactive oxygen species and the segregation of mtDNA sequence variants.
Nature genetics 2007;39(5):571-2; author reply 572.
2007: François-Guillaume Debray; Marie Lambert; Isabelle Chevalier; Yvonne Robitaille; Jean-Claude Decarie; Eric A Shoubridge; Brian H Robinson; Grant A Mitchell
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.
Pediatrics 2007;119(4):722-33.
2007: Eric A Shoubridge; Timothy Wai
Mitochondrial DNA and the mammalian oocyte.
Current topics in developmental biology 2007;77():87-111.
2007: Scot C Leary; Paul A Cobine; Brett A Kaufman; Guy-Hellen Guercin; Andre Mattman; Jan Palaty; Gillian Lockitch; Dennis R Winge; Pierre Rustin; Rita Horvath; Eric A Shoubridge
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
Cell metabolism 2007;5(1):9-20.
2006: Jan A M Smeitink; Orly Elpeleg; Hana Antonicka; Heleen Diepstra; Ann Saada (Reisch); Paulien Smits; Florin Sasarman; Gert Vriend; Jasmine Jacob-Hirsch; Avraham Shaag; Gideon Rechavi; Brigitte Welling; Jurgen Horst; Richard J T Rodenburg; Bert van den Heuvel; Eric A Shoubridge
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
American journal of human genetics 2006;79(5):869-77.
2006: Scot C Leary; Andre Mattman; Timothy Wai; David C Koehn; Lorne A Clarke; Suzanne Chan; Brenda Lomax; Patrice Eydoux; Hilary D Vallance; Eric A Shoubridge
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.
Molecular genetics and metabolism 2006;89(1-2):129-33.
2006: Hana Antonicka; Florin Sasarman; Nancy G Kennaway; Eric A Shoubridge
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
Human molecular genetics 2006;15(11):1835-46.
2006: Paul A Cobine; Fabien Pierrel; Scot C Leary; Florin Sasarman; Yih-Chern Horng; Eric A Shoubridge; Dennis R Winge
The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.
The Journal of biological chemistry 2006;281(18):12270-6.
2006: A K J van Riesen; Hana Antonicka; Andreas Ohlenbusch; Eric A Shoubridge; Ekkehard Wilichowski
Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.
Neuropediatrics 2006;37(2):88-94.
2006: Jordan P Lerner-Ellis; Jamie C Tirone; Peter D Pawelek; Carole Doré; Janet L Atkinson; David Watkins; Chantal F Morel; T Mary Fujiwara; Emily Moras; Angela Hosack; Gail V Dunbar; Hana Antonicka; Vince Forgetta; C Melissa Dobson; Daniel Leclerc; Roy A Gravel; Eric A Shoubridge; James W Coulton; Pierre Lepage; Johanna M Rommens; Kenneth Morgan; David S Rosenblatt
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Nature genetics 2006;38(1):93-100.
2005: Xingxing Liu; Ning Jiang; Bryan Hughes; Eve Bigras; Eric A Shoubridge; Siegfried Hekimi
Evolutionary conservation of the clk-1-dependent mechanism of longevity: loss of mclk1 increases cellular fitness and lifespan in mice.
Genes & development 2005;19(20):2424-34.
2005: Yih-Chern Horng; Scot C Leary; Paul A Cobine; Fiona B J Young; Graham Neil George; Eric A Shoubridge; Dennis R Winge
Human Sco1 and Sco2 function as copper-binding proteins.
The Journal of biological chemistry 2005;280(40):34113-22.
2005: Maria Pilar Bayona-Bafaluy; Bas Blits; Brendan J Battersby; Eric A Shoubridge; Carlos T Moraes
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 2005;102(40):14392-7.
2005: Isla Ogilvie; Nancy G Kennaway; Eric A Shoubridge
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
The Journal of clinical investigation 2005;115(10):2784-92.
2005: Brendan J Battersby; Margaret E Redpath; Eric A Shoubridge
Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides.
Human molecular genetics 2005;14(17):2587-94.
2005: Anne-Marie Laberge; Michele Jomphe; Louis Houde; Helene Vezina; Marc Tremblay; Bertrand Desjardins; Damian Labuda; Marc St-Hilaire; Carol Macmillan; Eric A Shoubridge; Bernard Brais
A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.
American journal of human genetics 2005;77(2):313-7.
2005: Roberto P Anitori; Kara Manning; Franklin Quan; Richard G Weleber; Neil R M Buist; Eric A Shoubridge; Nancy G Kennaway
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.
Molecular genetics and metabolism 2005;84(2):176-88.
2004: Marieke Coenen; Hana Antonicka; Cristina Ugalde; Florin Sasarman; Rainer Rossi; J G A M Angelien Heister; Robert F Newbold; Frans J M Trijbels; Lambert P van den Heuvel; Eric A Shoubridge; Jan A M Smeitink
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
The New England journal of medicine 2004;351(20):2080-6.
2004: Scot C Leary; Brett A Kaufman; Giovanna Pellecchia; Guy-Hellen Guercin; Andre Mattman; Michaela Jaksch; Eric A Shoubridge
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
Human molecular genetics 2004;13(17):1839-48.
2004: C E Oquendo; Hana Antonicka; Eric A Shoubridge; W Reardon; G K Brown
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.
Journal of medical genetics 2004;41(7):540-4.
2003: Hana Antonicka; Isla Ogilvie; Tanja Taivassalo; Roberto P Anitori; Ronald G Haller; John Vissing; Nancy G Kennaway; Eric A Shoubridge
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 2003;278(44):43081-8.
2003: Hana Antonicka; Scot C Leary; Guy-Hellen Guercin; Jeffrey N Agar; Rita Horvath; Nancy G Kennaway; Cary O Harding; Michaela Jaksch; Eric A Shoubridge
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 2003;12(20):2693-702.
2003: Nicola L Dean; Brendan J Battersby; Asangla Ao; Roger G Gosden; Seang Lin Tan; Eric A Shoubridge; Mária Judit Molnár
Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.
Molecular human reproduction 2003;9(10):631-8.
2003: Ning Jiang; Claire Y Bénard; Hania Kébir; Eric A Shoubridge; Siegfried Hekimi
Human CLK2 links cell cycle progression, apoptosis, and telomere length regulation.
The Journal of biological chemistry 2003;278(24):21678-84.
2003: Scot C Leary; Eric A Shoubridge
Mitochondrial biogenesis: which part of "NO" do we understand?
BioEssays : news and reviews in molecular, cellular and developmental biology 2003;25(6):538-41.
2003: Brendan J Battersby; J Concepción Loredo-Osti; Eric A Shoubridge
Nuclear genetic control of mitochondrial DNA segregation.
Nature genetics 2003;33(2):183-6.
2003: Hana Antonicka; Andre Mattman; Christopher G Carlson; D Moira Glerum; Kristen C Hoffbuhr; Scot C Leary; Nancy G Kennaway; Eric A Shoubridge
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
American journal of human genetics 2003;72(1):101-14.
2002: Eric A Shoubridge
The ABCs of mitochondrial transcription.
Nature genetics 2002;31(3):227-8.
2002: Florin Sasarman; George Karpati; Eric A Shoubridge
Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy.
Human molecular genetics 2002;11(14):1669-81.
2001: Michaela Jaksch; Claudia Paret; Rolf Stucka; N Horn; Josef Müller-Höcker; Rita Horvath; N Trepesch; G Stecker; Peter Freisinger; Christian Thirion; J Müller; R Lunkwitz; Gerhard Rödel; Eric A Shoubridge; Hanns Lochmüller
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 2001;10(26):3025-35.
2001: F Levavasseur; Hiroko Miyadera; J Sirois; Michel L Tremblay; Kiyoshi Kita; Eric A Shoubridge; Siegfried Hekimi
Ubiquinone is necessary for mouse embryonic development but is not essential for mitochondrial respiration.
The Journal of biological chemistry 2001;276(49):46160-4.
2001: Michaela Jaksch; Rita Horvath; N Horn; D P Auer; Carol Macmillan; J Peters; Klaus-Dieter Gerbitz; I Kraegeloh-Mann; Ania C Muntau; Veronika Karcagi; R Kálmánchey; Hanns Lochmuller; Eric A Shoubridge; Peter Freisinger
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
Neurology 2001;57(8):1440-6.
2001: Brendan J Battersby; Eric A Shoubridge
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 2001;10(22):2469-79.
2001: Eric A Shoubridge
Nuclear genetic defects of oxidative phosphorylation.
Human molecular genetics 2001;10(20):2277-84.
2001: Eric A Shoubridge
Nuclear gene defects in respiratory chain disorders.
Seminars in neurology 2001;21(3):261-7.
2001: Ning Jiang; F Levavasseur; B McCright; Eric A Shoubridge; Siegfried Hekimi
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 2001;276(31):29218-25.
2001: Tanja Taivassalo; Eric A Shoubridge; J Chen; Nancy G Kennaway; Salvatore DiMauro; Douglas L Arnold; Ronald G Haller
Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects.
Annals of neurology 2001;50(2):133-41.
2001: Ruth Ann Marrie; Eric A Shoubridge; J P Antel; Douglas L Arnold; J Chen; Eva Andermann; Frederick Andermann
Unusual imaging findings in progressive myoclonus epilepsy.
Epilepsia 2001;42(3):430-2.
2001: Eric A Shoubridge
Cytochrome c oxidase deficiency.
American journal of medical genetics 2001;106(1):46-52.
2000: Rita Horvath; Hanns Lochmüller; Rolf Stucka; J Yao; Eric A Shoubridge; S H Kim; Klaus-Dieter Gerbitz; Michaela Jaksch
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.
Biochemical and biophysical research communications 2000;276(2):530-3.
2000: Eric A Shoubridge
Mitochondrial DNA segregation in the developing embryo.
Human reproduction (Oxford, England) 2000;15 Suppl 2():229-34.
2000: Michaela Jaksch; Isla Ogilvie; J Yao; G Kortenhaus; H G Bresser; Klaus-Dieter Gerbitz; Eric A Shoubridge
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
Human molecular genetics 2000;9(5):795-801.
2000: Rita Horváth; Angela Abicht; Eric A Shoubridge; Veronika Karcagi; Csilla Rózsa; Sámuel Komoly; Hanns Lochmüller
Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS.
Journal of neurology 2000;247(1):65-7.
2000: Carol Macmillan; T A Johns; K Fu; Eric A Shoubridge
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 2000;66(1):332-5.
1999: J Yao; Eric A Shoubridge
Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency.
Human molecular genetics 1999;8(13):2541-9.
1999: G Pari; M M Crerar; Josephine Nalbantoglu; Eric A Shoubridge; A Jani; S Tsujino; S Shanske; S DiMauro; John M C Howell; George Karpati
Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro.
Neurology 1999;53(6):1352-4.
1999: Tanja Taivassalo; K Fu; T Johns; D Arnold; George Karpati; Eric A Shoubridge
Gene shifting: a novel therapy for mitochondrial myopathy.
Human molecular genetics 1999;8(6):1047-52.
1999: Hanns Lochmüller; T Johns; Eric A Shoubridge
Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts.
Experimental cell research 1999;248(1):186-93.
1999: Sandeep Raha; Frank Merante; Eric A Shoubridge; A Tomoko Myint; Ingrid Tein; Lee Benson; T Johns; Brian H Robinson
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 1999;13(3):245-54.
1998: Z Zhu; J Yao; T Johns; K Fu; I De Bie; Carol Macmillan; A P Cuthbert; Robert F Newbold; J Wang; M Chevrette; G K Brown; R M Brown; Eric A Shoubridge
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
Nature genetics 1998;20(4):337-43.
1998: Eric A Shoubridge
Mitochondrial encephalomyopathies.
Current opinion in neurology 1998;11(5):491-6.
1998: Rita Horvath; K Fu; T Johns; Angela Genge; George Karpati; Eric A Shoubridge
Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis.
Journal of neuropathology and experimental neurology 1998;57(5):396-403.
1998: Carol Macmillan; T Kirkham; K Fu; V Allison; Eva Andermann; D Chitayat; D Fortier; Mark Gans; H Hare; N Quercia; D Zackon; Eric A Shoubridge
Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.
Neurology 1998;50(2):417-22.
1997: Eric A Shoubridge; T Johns; G Karpati
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 1997;6(13):2239-42.
1997: J P Jenuth; A C Peterson; Eric A Shoubridge
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice.
Nature genetics 1997;16(1):93-5.
1996: K Fu; R Hartlen; T Johns; A Genge; George Karpati; Eric A Shoubridge
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 1996;5(11):1835-40.
1996: J P Jenuth; Alan Peterson; K Fu; Eric A Shoubridge
Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.
Nature genetics 1996;14(2):146-51.
1996: Eric A Shoubridge; T Johns; L Boulet
Use of myoblast cultures to study mitochondrial myopathies.
Methods in enzymology 1996;264():465-75.
1996: J S Tauskela; Eric A Shoubridge
Intracellular calcium dynamics and cellular energetics in ischemic NG108-15 cells studied by concurrent 31P/19F and 23Na double-quantum filtered NMR spectroscopy.
Journal of neurochemistry 1996;66(1):266-76.
1995: Eric A Shoubridge
Segregation of mitochondrial DNAs carrying a pathogenic point mutation (tRNA(leu3243)) in cybrid cells.
Biochemical and biophysical research communications 1995;213(1):189-95.
1995: A Genge; George Karpati; D Arnold; Eric A Shoubridge; S Carpenter
Familial myopathy with conspicuous depletion of mitochondria in muscle fibers: a morphologically distinct disease.
Neuromuscular disorders : NMD 1995;5(2):139-44.
1995: W Johnston; George Karpati; S Carpenter; D Arnold; Eric A Shoubridge
Late-onset mitochondrial myopathy.
Annals of neurology 1995;37(1):16-23.
1994: Eric A Shoubridge
Mitochondrial DNA diseases: histological and cellular studies.
Journal of bioenergetics and biomembranes 1994;26(3):301-10.
1993: J S Tauskela; Eric A Shoubridge
Response of the 23Na-NMR double-quantum filtered signal to changes in Na+ ion concentration in model biological solutions and human erythrocytes.
Biochimica et biophysica acta 1993;1158(2):155-65.
1993: Carol Macmillan; B Lach; Eric A Shoubridge
Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation.
Neurology 1993;43(8):1586-90.
1993: George Karpati; D Ajdukovic; D Arnold; R B Gledhill; R Guttmann; P Holland; P A Koch; Eric A Shoubridge; D Spence; M Vanasse
Myoblast transfer in Duchenne muscular dystrophy.
Annals of neurology 1993;34(1):8-17.
1992: L Boulet; George Karpati; Eric A Shoubridge
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).
American journal of human genetics 1992;51(6):1187-200.
1992: M Ouellet; Eric A Shoubridge
Phosphocreatine-dependent protein phosphorylation in rat skeletal muscle.
The Biochemical journal 1992;284 ( Pt 1)():115-22.
1991: S F Berkovic; Frederick Andermann; Eric A Shoubridge; S Carpenter; Yvonne Robitaille; Eva Andermann; C Melmed; George Karpati
Mitochondrial dysfunction in multiple symmetrical lipomatosis.
Annals of neurology 1991;29(5):566-9.
1991: Paul Matthews; S F Berkovic; Eric A Shoubridge; Frederick Andermann; George Karpati; S Carpenter; Douglas L Arnold
In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalomyopathy (MERRF).
Annals of neurology 1991;29(4):435-8.
1991: Paul Matthews; C Allaire; Eric A Shoubridge; George Karpati; S Carpenter; Douglas L Arnold
In vivo muscle magnetic resonance spectroscopy in the clinical investigation of mitochondrial disease.
Neurology 1991;41(1):114-20.
1991: George Karpati; D Arnold; P Matthews; S Carpenter; Frederick Andermann; Eric A Shoubridge
Correlative multidisciplinary approach to the study of mitochondrial encephalomyopathies.
Revue neurologique 1991;147(6-7):455-61.