Eric Shoubridge

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. ncbi Mitochondrial DNA segregation in the developing embryo
    E A Shoubridge
    Montreal Neurological Institute and Department of Human Genetics, McGill University, Canada
    Hum Reprod 15:229-34. 2000
  2. ncbi Medicine. Sidestepping mutational meltdown
    Eric A Shoubridge
    Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec H3A 2B4, Canada
    Science 319:914-5. 2008
  3. ncbi Supersizing the mitochondrial respiratory chain
    Eric A Shoubridge
    Department of Human Genetics, McGill University MNI, Montreal, QC H3A 2B4, Canada
    Cell Metab 15:271-2. 2012
  4. ncbi Nuclear genetic defects of oxidative phosphorylation
    E A Shoubridge
    Montreal Neurological Institute and Department of Human Genetics, McGill University, 3801 University Street, Montreal, Quebec H3A 2B4, Canada
    Hum Mol Genet 10:2277-84. 2001
  5. ncbi Mitochondrial encephalomyopathies
    E A Shoubridge
    Montreal Neurological Institute, Quebec, Canada
    Curr Opin Neurol 11:491-6. 1998
  6. ncbi Something old, something new, something borrowed
    Eric A Shoubridge
    Department of Human Genetics, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, Quebec H3A 2B4, Canada
    Cell Metab 9:307-8. 2009
  7. ncbi Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy
    E A Shoubridge
    Montreal Neurological Institute, 3801 University Street, Montreal, Quebec, Canada H3A 2B4
    Hum Mol Genet 6:2239-42. 1997
  8. ncbi Cytochrome c oxidase deficiency
    E A Shoubridge
    Department of Neurology, McGill University, Montreal, Quebec, Canada
    Am J Med Genet 106:46-52. 2001
  9. ncbi SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    Z Zhu
    Montreal Neurological Institute, Quebec, Canada
    Nat Genet 20:337-43. 1998
  10. ncbi Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
    J Yao
    Montreal Neurological Institute and Department of Human Genetics, McGill University, 3801 University Street, Montreal H3A 2B4, Canada
    Hum Mol Genet 8:2541-9. 1999

Research Grants

  1. Transmission genetics of mammalian mitochondrial DNA
    Eric Shoubridge; Fiscal Year: 2007

Collaborators

  • G Karpati
  • Ning Jiang
  • Siegfried Hekimi
  • Jia huai Wang
  • J Z Chen
  • D Chitayat
  • M Jaksch
  • W Reardon
  • J Yao
  • A K J van Riesen
  • Xingxing Liu
  • H Antonicka
  • C E Oquendo
  • C MacMillan
  • R A Marrie
  • G K Brown
  • K Fu
  • B J Battersby
  • R Horvath
  • A Poyau
  • E Andermann
  • E K G Wilichowski
  • A Ohlenbusch
  • Z Zhu
  • Eve Bigras
  • Bryan Hughes
  • J P Jenuth
  • D L Arnold
  • F Andermann
  • J P Antel
  • K D Gerbitz
  • S H Kim
  • M F Bouzidi
  • B Echenne
  • H Lochmuller
  • K Buchet
  • R Stucka
  • C Godinot
  • M T Zabot
  • R F Newbold
  • R M Brown
  • M Gans
  • T Johns
  • V Allison
  • D Zackon
  • H Hare
  • I De Bie
  • A P Cuthbert
  • D Fortier
  • M Chevrette
  • N Quercia
  • T Kirkham
  • A C Peterson
  • M Ouellet

Detail Information

Publications25

  1. ncbi Mitochondrial DNA segregation in the developing embryo
    E A Shoubridge
    Montreal Neurological Institute and Department of Human Genetics, McGill University, Canada
    Hum Reprod 15:229-34. 2000
    ..These results have important practical implications for clinical genetics...
  2. ncbi Medicine. Sidestepping mutational meltdown
    Eric A Shoubridge
    Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec H3A 2B4, Canada
    Science 319:914-5. 2008
  3. ncbi Supersizing the mitochondrial respiratory chain
    Eric A Shoubridge
    Department of Human Genetics, McGill University MNI, Montreal, QC H3A 2B4, Canada
    Cell Metab 15:271-2. 2012
    ..A number of recent papers identify the first protein factors necessary for supercomplex assembly and stability...
  4. ncbi Nuclear genetic defects of oxidative phosphorylation
    E A Shoubridge
    Montreal Neurological Institute and Department of Human Genetics, McGill University, 3801 University Street, Montreal, Quebec H3A 2B4, Canada
    Hum Mol Genet 10:2277-84. 2001
    ..Some clear genotype-phenotype associations have emerged, and there is an unexpected link between some structural gene mutations and rare cancers, implicating mitochondria as oxygen sensors in the hypoxia response...
  5. ncbi Mitochondrial encephalomyopathies
    E A Shoubridge
    Montreal Neurological Institute, Quebec, Canada
    Curr Opin Neurol 11:491-6. 1998
    ....
  6. ncbi Something old, something new, something borrowed
    Eric A Shoubridge
    Department of Human Genetics, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, Quebec H3A 2B4, Canada
    Cell Metab 9:307-8. 2009
    ..Work in this issue (Metodiev et al., 2009) shows that loss of TFB1M abolishes mitochondrial ribosome assembly without affecting mitochondrial transcription...
  7. ncbi Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy
    E A Shoubridge
    Montreal Neurological Institute, 3801 University Street, Montreal, Quebec, Canada H3A 2B4
    Hum Mol Genet 6:2239-42. 1997
    ..These results demonstrate that it may be possible to improve muscle function in similar patients by methods that promote satellite cell incorporation into existing myofibres...
  8. ncbi Cytochrome c oxidase deficiency
    E A Shoubridge
    Department of Neurology, McGill University, Montreal, Quebec, Canada
    Am J Med Genet 106:46-52. 2001
    ..Although the genetic defects in the majority of patients with COX deficiency are unknown, it is likely that most will be solved in the near future using functional complementation techniques...
  9. ncbi SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    Z Zhu
    Montreal Neurological Institute, Quebec, Canada
    Nat Genet 20:337-43. 1998
    ..These data suggest a role for SURF1 in the biogenesis of the COX complex and define a new class of gene defects causing human neurodegenerative disease...
  10. ncbi Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
    J Yao
    Montreal Neurological Institute and Department of Human Genetics, McGill University, 3801 University Street, Montreal H3A 2B4, Canada
    Hum Mol Genet 8:2541-9. 1999
    ....
  11. ncbi Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication
    B J Battersby
    Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Hum Mol Genet 10:2469-79. 2001
    ....
  12. ncbi Mouse CLK-1 is imported into mitochondria by an unusual process that requires a leader sequence but no membrane potential
    N Jiang
    Department of Biology, McGill University, H3A 1B1, , , Canada
    J Biol Chem 276:29218-25. 2001
    ..However, in contrast to all known mitochondrial proteins that contain a cleavable pre-sequence, the import of mCLK1 does not require a mitochondrial membrane potential...
  13. ncbi Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
    J P Jenuth
    Montreal Neurological Institute, Quebec, Canada
    Nat Genet 14:146-51. 1996
    ..These results provide the basis for estimating recurrence risks for mitochondrial disease due to pathogenic mtDNA mutations and for predicting the rate of fixation of neutral mtDNA mutations in maternal lineages...
  14. ncbi Evolutionary conservation of the clk-1-dependent mechanism of longevity: loss of mclk1 increases cellular fitness and lifespan in mice
    Xingxing Liu
    Department of Biology, McGill University, H3A 1B1, Montreal, Quebec, Canada
    Genes Dev 19:2424-34. 2005
    ..These observations indicate that the distinct mechanism by which clk-1/mclk1 affects lifespan is evolutionarily conserved from nematodes to mammals and is not tied to a particular anatomy or physiology...
  15. ncbi Unusual imaging findings in progressive myoclonus epilepsy
    R A Marrie
    Department of Neurology, McGill University, Montreal, Quebec, Canada
    Epilepsia 42:430-2. 2001
    ..Abnormal white matter signals are not a feature of the known PME syndromes, although they occur in Leber's hereditary optic neuropathy (LHON). These abnormalities oriented the diagnosis toward mitochondrial disease...
  16. ncbi Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy
    C MacMillan
    Montreal Neurological Institute, Quebec, Canada
    Neurology 50:417-22. 1998
    ....
  17. ncbi Nuclear gene defects in respiratory chain disorders
    E A Shoubridge
    Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec, Canada
    Semin Neurol 21:261-7. 2001
    ..This selective vulnerability of different cell populations remains unexplained. The majority of patients with a biochemical deficiency in one or the other of the respiratory chain complexes do not yet have a molecular diagnosis...
  18. ncbi Phosphocreatine-dependent protein phosphorylation in rat skeletal muscle
    M Ouellet
    Montreal Neurological Institute, Quebec, Canada
    Biochem J 284:115-22. 1992
    ..Natl. Acad. Sci. U.S.A. 87, 4294-4298], attributed to the action of novel kinases, are likely to represent phosphoenzyme intermediates labelled by bisphosphorylated metabolites in a similar manner...
  19. ncbi Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
    M Jaksch
    Metabolic Disease Centre Munich Schwabing, Koelner Platz 1, 80804 Munich, Germany
    Hum Mol Genet 10:3025-35. 2001
    ..Whatever the mechanism, this result suggests a possible therapy for the early treatment of this fatal infantile disease...
  20. ncbi Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency
    R Horvath
    Metabolic Disease Centre Munich, Institute of Clinical Chemistry, Munich, Germany
    Biochem Biophys Res Commun 276:530-3. 2000
    ..We conclude that neither SCO1 nor COX17 are common causes of COX deficiency disorders...
  21. ncbi Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
    M Jaksch
    Institute of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Institute of Diabetes Research of the Academic Hospital Schwabing, Munich, Germany
    Hum Mol Genet 9:795-801. 2000
    ....
  22. ncbi Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation
    A K J van Riesen
    Department of Pediatrics and Pediatric Neurology, Georg August University Goettingen, Robert Koch Strasse 40, 37075 Goettingen, Germany
    Neuropediatrics 37:88-94. 2006
    ..This case of segmental isodisomy illustrates that genotyping of parents is crucial for correct genetic counseling...
  23. ncbi Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
    A Poyau
    Centre de Genetique Moleculaire et Cellulaire, UMR 5534, Centre National de la Recherche Scientifique, Université Claude Bernard de Lyon I, Villeurbanne, France
    Hum Genet 106:194-205. 2000
    ..COX activity could be restored in fibroblasts of the three patients by complementation with a retroviral vector containing normal SURF1 cDNA. These mutations identify domains essential to Surf1 protein structure and/or function...
  24. ncbi Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
    M Jaksch
    Metabolic Disease Centre Munich, Germany
    Neurology 57:1440-6. 2001
    ..To report three unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had a homozygous missense mutation in SCO2...
  25. ncbi Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome
    C E Oquendo
    J Med Genet 41:540-4. 2004

Research Grants4

  1. Transmission genetics of mammalian mitochondrial DNA
    Eric Shoubridge; Fiscal Year: 2007
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