E. Shoubridge

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Nuclear genetic defects of oxidative phosphorylation.

E. Shoubridge, 2001, Human molecular genetics.

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

E. Shoubridge, C. Oquendo, H. Antonicka, 2004, Journal of Medical Genetics.

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

E. Shoubridge, H. Antonicka, M. Chevrette, 2009, Nature Genetics.

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Morten Duno, E. Shoubridge, M. Duno, 2007, American journal of human genetics.

The Role of Mitochondrial DNA Copy Number in Mammalian Fertility1

E. Shoubridge, T. Wai, D. Cyr, 2010, Biology of reproduction.

A high-density human mitochondrial proximity interaction network

E. Shoubridge, A. Gingras, H. Antonicka, 2020, bioRxiv.

A high-density human mitochondrial proximity interaction network

E. Shoubridge, A. Gingras, H. Antonicka, 2020, bioRxiv.

Biochemical adaptation in the skeletal muscle of rats depleted of creatine with the substrate analogue beta-guanidinopropionic acid.

D. J. Hayes, E. Shoubridge, G. Radda, 1985, The Biochemical journal.

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.

E. Shoubridge, C. Rankin, P. Pavlidis, 2020, American journal of human genetics.

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

E. Shoubridge, M. Chevrette, J. Yao, 1998, Nature Genetics.

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.

E. Shoubridge, H. Antonicka, F. Sasarman, 2011, Human molecular genetics.

A proximity biotinylation map of a human cell

E. Shoubridge, A. Gingras, H. Antonicka, 2019, bioRxiv.

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

E. Shoubridge, P. Rustin, D. Winge, 2007, Cell metabolism.

A CHCHD10 variant causing ALS elicits an unfolded protein response through the IRE1/XBP1 pathway

E. Shoubridge, Woranontee Weraarpachai, Isabella R Straub, 2020, bioRxiv.

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.

E. Shoubridge, R. Hartlen, T. Johns, 1996, Human molecular genetics.

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.

E. Shoubridge, R. Weleber, N. Kennaway, 2005, Molecular genetics and metabolism.

Use of myoblast cultures to study mitochondrial myopathies.

E. Shoubridge, T. Johns, L. Boulet, 1996, Methods in enzymology.

Ethanol: novel end product of vertebrate anaerobic metabolism.

E. Shoubridge, P. W. Hochachka, 1980, Science.

The integration and control of metabolism in the anoxic goldfish

E. Shoubridge, P. W. Hochachka, 1983 .

Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis.

E. Shoubridge, R. Horvath, T. Johns, 1998, Journal of neuropathology and experimental neurology.

Supersizing the mitochondrial respiratory chain.

E. Shoubridge, 2012, Cell metabolism.

Human Sco1 and Sco2 Function as Copper-binding Proteins*

E. Shoubridge, D. Winge, S. C. Leary, 2005, Journal of Biological Chemistry.

Human SCO 1 and SCO 2 have independent , cooperative functions in copper delivery to cytochrome c oxidase

E. Shoubridge, G. Pellecchia, B. Kaufman, 2004 .

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.

E. Shoubridge, G. Pellecchia, B. Kaufman, 2004, Human Molecular Genetics.

Alkalosis monitored by 31P NMR in a human glioma cell line exposed to the anti‐tumor drug 1, 3‐bis (2‐chloroethyl)‐1‐nitrosourea

E. Shoubridge, W. Feindel, B. Sanctuary, 1991, Magnetic resonance in medicine.

31P NMR saturation transfer measurements of the steady state rates of creatine kinase and ATP synthetase in the rat brain

E. Shoubridge, G. Radda, R. Briggs, 1982, FEBS letters.

A 31P-nuclear magnetic resonance study of skeletal muscle metabolism in rats depleted of creatine with the analogue beta-guanidinopropionic acid.

E. Shoubridge, G. Radda, 1984, Biochimica et biophysica acta.

Creatine kinase kinetics, ATP turnover, and cardiac performance in hearts depleted of creatine with the substrate analogue beta-guanidinopropionic acid.

E. Shoubridge, G. Radda, A. Seymour, 1985, Biochimica et Biophysica Acta.

Phosphocreatine-dependent protein phosphorylation in rat skeletal muscle.

E. Shoubridge, M. Ouellet, 1992, The Biochemical journal.

Mitochondrial disease therapy from thin air?

E. Shoubridge, 2016, Science.

Human CLK2 Links Cell Cycle Progression, Apoptosis, and Telomere Length Regulation*

E. Shoubridge, C. Benard, S. Hekimi, 2003, Journal of Biological Chemistry.

Developmental biology: Asexual healing

E. Shoubridge, 2009, Nature.

Sidestepping Mutational Meltdown

E. Shoubridge, T. Wai, 2008, Science.

Spectroscopic imaging of frontal neuronal dysfunction in hyperekplexia.

E. Shoubridge, D. Arnold, F. Cendes, 1998, Brain : a journal of neurology.

A comparison of in vivo catalysis by creatine kinase in avian skeletal muscles with different fibre composition.

D. J. Hayes, E. Shoubridge, G. Radda, 1985, Biochimica et biophysica acta.

Regulation of creatine kinase during steady-state isometric twitch contraction in rat skeletal muscle.

E. Shoubridge, G. Radda, J. Bland, 1984, Biochimica et biophysica acta.

Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree

E. Shoubridge, D. Arnold, F. Dubeau, 2000, Annals of neurology.

Mitochondrial Encephalomyopathies: A Solution to the Enigma of the Ramsay Hunt Syndrome

E. Shoubridge, F. Andermann, S. Berkovic, 1987 .

Mitochondrial biogenesis: which part of "NO" do we understand?

E. Shoubridge, S. Leary, 2003, BioEssays : news and reviews in molecular, cellular and developmental biology.

Reconstitution of Mitochondria Derived Vesicle Formation Demonstrates Selective Enrichment of Oxidized Cargo

E. Shoubridge, H. McBride, B. Kaufman, 2012, PloS one.

Metabolic Changes in Cerebral Gliomas Within Hours of Treatment With Intra-Arterial BCNU Demonstrated by Phosphorus Magnetic Resonance Spectroscopy

E. Shoubridge, D. Arnold, J. Villemure, 1987, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Reactive oxygen species and the segregation of mtDNA sequence variants

E. Shoubridge, B. Battersby, 2007, Nature Genetics.

Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mt-ISR

E. Shoubridge, L. Zinman, Mari J Aaltonen, 2022, bioRxiv.

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

E. Shoubridge, F. Sasarman, T. Nishimura, 2009, Human molecular genetics.

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

E. Shoubridge, T. Hornemann, Mari J Aaltonen, 2022, The Journal of clinical investigation.

SPTLC1 variants associated with childhood onset amyotrophic lateral sclerosis produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

E. Shoubridge, T. Hornemann, Mari J Aaltonen, 2022, bioRxiv.

Response of the 23Na-NMR double-quantum filtered signal to changes in Na+ ion concentration in model biological solutions and human erythrocytes.

E. Shoubridge, J. Tauskela, 1993, Biochimica et Biophysica Acta.

Leber’s hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS

E. Shoubridge, H. Lochmüller, R. Horvath, 2000, Journal of Neurology.

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.

E. Shoubridge, T. Wai, Suzanne S Chan, 2006, Molecular genetics and metabolism.

SLC25A46 localizes to sites of mitochondrial fission and fusion and loss of function variants alter the oligomerization states of MFN2 and OPA1

E. Shoubridge, H. Antonicka, A. Janer, 2022, bioRxiv.

Estimation of cellular pH gradients with 31P-NMR in intact rabbit renal tubular cells.

E. Shoubridge, G. Radda, S. Adler, 1984, American Journal of Physiology.

The ABcs of mitochondrial transcription

E. Shoubridge, 2002, Nature Genetics.

Ubiquinone Is Necessary for Mouse Embryonic Development but Is Not Essential for Mitochondrial Respiration*

E. Shoubridge, M. Tremblay, S. Hekimi, 2001, The Journal of Biological Chemistry.

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

K. McKernan, E. Shoubridge, F. Sasarman, 2014, Human mutation.

Unusual Imaging Findings in Progressive Myoclonus Epilepsy

E. Shoubridge, D. Arnold, F. Andermann, 2001, Epilepsia.

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy

E. Shoubridge, D. Chitayat, E. Andermann, 1998, Neurology.

Correlative multidisciplinary approach to the study of mitochondrial encephalomyopathies.

P. Matthews, E. Shoubridge, F. Andermann, 1991, Revue neurologique.

Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy.

E. Shoubridge, T. Johns, G. Karpati, 1997, Human molecular genetics.

A gated 31P-n.m.r. study of bioenergetic recovery in rat skeletal muscle after tetanic contraction.

E. Shoubridge, G. Radda, M. Blackledge, 1989, The Biochemical journal.

An animal model of mitochondrial myopathy: A biochemical and physiological investigation of rats treated in vivo with the NADH-CoQ reductase inhibitor, diphenyleneiodonium

D. J. Hayes, E. Shoubridge, J. Cooper, 1988, Journal of the Neurological Sciences.

A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II

E. Shoubridge, H. Antonicka, R. Horvath, 2016, Molecular and Cellular Biology.

Early complex I assembly defects result in rapid turnover of the ND1 subunit.

E. Shoubridge, Olga Zurita Rendón, 2012, Human molecular genetics.

Mitochondrial Replacement Therapy: The Road to the Clinic in Canada.

E. Shoubridge, B. Knoppers, Stacey Hume, 2017, Journal of Obstetrics and Gynaecology Canada.

Early Metabolic Changes Following Chemotherapy of Human Gliomas In Vivo Demonstrated by Phosphorus Magnetic Resonance Spectroscopy

E. Shoubridge, D. Arnold, J. Villemure, 1989, Investigative radiology.

Proton and phosphorus magnetic resonance spectroscopy of human astrocytomas in vivo. Preliminary observations on tumor grading

E. Shoubridge, D. Arnold, J. Villemure, 1990, NMR in biomedicine.

LONP1 Is Required for Maturation of a Subset of Mitochondrial Proteins, and Its Loss Elicits an Integrated Stress Response

E. Shoubridge, Olga Zurita Rendón, 2018, Molecular and Cellular Biology.

LONP1 is required for maturation of a subset of mitochondrial proteins and its loss elicits an integrated stress response

E. Shoubridge, Olga Zurita Rendón, 2018, bioRxiv.

Something old, something new, something borrowed ...

E. Shoubridge, 2009, Cell Metabolism.

Mitochondrial encephalomyopathies.

E. Shoubridge, 1998, Current opinion in neurology.

degSegregation of Mitochondrial DNAs Carrying a Pathogenic Point Mutation (tRNAleu3243) in Cybrid Cells

E. Shoubridge, 1995 .

ESYT1 tethers the endoplasmic reticulum to mitochondria and is required for mitochondrial lipid and calcium homeostasis

E. Shoubridge, A. Gingras, H. Antonicka, 2022, bioRxiv.

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

E. Shoubridge, F. Andermann, S. Berkovic, 1991, The Lancet.

NMR monitoring of the energy status of skeletal muscle during hemodialysis using acetate.

E. Shoubridge, P. Vinay, M. Léveillé, 1988, Clinical and investigative medicine. Medecine clinique et experimentale.

Brain phosphorus magnetic resonance spectroscopy in acute bacterial meningitis.

P. Matthews, E. Shoubridge, D. Arnold, 1989, Archives of neurology.

Autosomal dominant chronic progressive external ophthalmoplegia: A tale of two genomes

E. Shoubridge, 1996, Annals of neurology.

Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

E. Shoubridge, J. Coulton, A. Janer, 2013, Molecular genetics and metabolism.

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

E. Shoubridge, A. Janer, B. Robinson, 2011, American journal of human genetics.

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.

E. Shoubridge, N. Dean, Seang Tan, 2003, Molecular human reproduction.

Mitochondrial DNA and the mammalian oocyte.

E. Shoubridge, T. Wai, 2007, Current topics in developmental biology.

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

E. Shoubridge, T. Wai, Timothy Wai, 2008, Nature Genetics.

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

E. Shoubridge, L. Boulet, G. Karpati, 1992, American journal of human genetics.

Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication.

E. Shoubridge, B. Battersby, 2001, Human molecular genetics.

Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease.

E. Shoubridge, M. Bayona-Bafaluy, C. Moraes, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

E. Shoubridge, K. Gerbitz, Hanns Lochmüller, 2000, Biochemical and biophysical research communications.

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

The P174L Mutation in Human Sco1 Severely Compromises Cox17-dependent Metallation but Does Not Impair Copper Binding*

E. Shoubridge, D. Winge, F. Sasarman, 2006, Journal of Biological Chemistry.

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

E. Shoubridge, H. Antonicka, I. Thiffault, 2015, Human molecular genetics.

Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation.

E. Shoubridge, C. Macmillan, C. J. Macmillan, 1996, Pediatric neurology.

Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis.

E. Shoubridge, H. Antonicka, 2015, Cell reports.

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.

E. Shoubridge, G. Vriend, H. Antonicka, 2006, American journal of human genetics.

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.

E. Shoubridge, H. Antonicka, F. Sasarman, 2006, Human molecular genetics.

CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter.

E. Shoubridge, J. Prudent, E. Dassa, 2015, Cell metabolism.

Cybrids in Alzheimer's disease: A cellular model of the disease?

E. Shoubridge, E. Schon, C. Moraes, 1998, Neurology.

Poly (A) tail length of human mitochondrial mRNAs is tissue-specific and a mutation in LRPPRC results in transcript-specific patterns of deadenylation

E. Shoubridge, S. Honarmand, 2020, Molecular genetics and metabolism reports.

Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion

J. Rioux, E. Shoubridge, C. Des Rosiers, 2017, Human molecular genetics.

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

E. Shoubridge, H. Antonicka, Woranontee Weraarpachai, 2015, Human molecular genetics.

Long-term Outcome and Clinical Spectrum of 73 Pediatric Patients With Mitochondrial Diseases

E. Shoubridge, G. Mitchell, B. Robinson, 2007, Pediatrics.

Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.

E. Shoubridge, C. Macmillan, T. Johns, 2000, American journal of human genetics.

The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.

E. Shoubridge, H. Antonicka, F. Sasarman, 2013, Cell metabolism.

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.

E. Shoubridge, H. Antonicka, A. Rötig, 2012, American journal of human genetics.

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.

E. Shoubridge, H. Antonicka, R. Horvath, 2003, Human molecular genetics.

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

E. Shoubridge, H. Antonicka, K. Hoffbuhr, 2003, American journal of human genetics.

Cytochrome c Oxidase Deficiency

E. Shoubridge, H. Nakase, A. Lombès, 1990, Pediatric Research.

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency.

E. Shoubridge, J. Yao, J. Yao, 1999, Human molecular genetics.

Mutations in SURF1 are not specifically associated with Leigh syndrome

E. Shoubridge, A. Munnich, P. Rustin, 2001, Journal of medical genetics.

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

E. Shoubridge, K. Gerbitz, J. Yao, 2000, Human molecular genetics.

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

E. Shoubridge, B. Echenne, J. Yao, 2000 .

with Leigh syndrome are not specifically associated SURF1 Mutations in

E. Shoubridge, J. Yao, D. Chrétien, 2008 .

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

E. Shoubridge, A. Gingras, H. McBride, 2016, EMBO molecular medicine.

Gimap3 Regulates Tissue-Specific Mitochondrial DNA Segregation

E. Shoubridge, T. Wai, R. Jokinen, 2010, PLoS genetics.

Nuclear genetic control of mitochondrial DNA segregation

E. Shoubridge, B. Battersby, J. C. Loredo-Osti, 2003, Nature Genetics.

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA

E. Shoubridge, A. Peterson, J. P. Jenuth, 1996, Nature Genetics.

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

E. Shoubridge, H. Antonicka, F. Sasarman, 2015, Human molecular genetics.

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux

E. Shoubridge, M. Tarnopolsky, D. Winge, 2013, Molecular biology of the cell.

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

E. Shoubridge, M. Baumgartner, T. Suormala, 2012, Nature Genetics.

LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria

E. Shoubridge, H. Antonicka, T. Wai, 2010, Molecular biology of the cell.

Author Correction: A proximity-dependent biotinylation map of a human cell

E. Shoubridge, A. Gingras, H. Antonicka, 2021, Nature.

TO JMG Functional and genetic studies demonstrate that mutation in the COX 15 gene can cause Leigh syndrome

E. Shoubridge, H. Antonicka, W. Reardon, 2004 .

Evolutionary conservation of the clk-1-dependent mechanism of longevity: loss of mclk1 increases cellular fitness and lifespan in mice.

Siegfried Hekimi, E. Shoubridge, S. Hekimi, 2005, Genes & development.

Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

E. Shoubridge, I. Ogilvie, N. Kennaway, 2005, The Journal of clinical investigation.

MITRAC Links Mitochondrial Protein Translocation to Respiratory-Chain Assembly and Translational Regulation

E. Shoubridge, Woranontee Weraarpachai, F. Sasarman, 2012, Cell.

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

E. Shoubridge, H. Antonicka, R. Rossi, 2004, The New England journal of medicine.

Mitochondrial dysfunction in multiple symmetrical lipomatosis

E. Shoubridge, F. Andermann, S. Berkovic, 1991, Annals of neurology.

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.

E. Shoubridge, D. Arnold, F. Andermann, 1989, Brain : a journal of neurology.

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Jean-Pierre Bouchard, Hugo J. Bellen, Geneviève Bernard, 2012, PLoS biology.

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

E. Shoubridge, H. Antonicka, G. Brown, 2012, American journal of human genetics.

Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

E. Shoubridge, H. Antonicka, Kevin C. H. Ha, 2013, Human mutation.

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

E. Shoubridge, T. Pan, M. Evans, 2018, Nature Communications.

Cutting the Gordian Knot of a Mitochondrial Disease.

E. Shoubridge, 2021, Med.

Mitochondrial DNA diseases: Histological and cellular studies

E. Shoubridge, 1994, Journal of bioenergetics and biomembranes.

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

E. Shoubridge, W. Wasserman, H. Antonicka, 2015, European Journal of Human Genetics.

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

E. Shoubridge, I. Thiffault, F. Sasarman, 2012, Human mutation.

Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.

E. Shoubridge, Woranontee Weraarpachai, Isabella R. Straub, 2021, Human molecular genetics.

Loss of CHCHD10–CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS

E. Shoubridge, E. Rogaeva, Woranontee Weraarpachai, 2018, Human molecular genetics.

Mitochondrial DNA segregation in the developing embryo.

E. Shoubridge, 2000, Human reproduction.

Mitochondrial genetics and human disease

E. Shoubridge, L. Grossman, 1996, BioEssays : news and reviews in molecular, cellular and developmental biology.

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

E. Shoubridge, Hanns Lochmüller, R. Horvath, 2001, Human molecular genetics.

Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency*

E. Shoubridge, H. Antonicka, R. Haller, 2003, Journal of Biological Chemistry.

Familial inclusion body myositis among Kurdish-Iranian Jews.

E. Shoubridge, R. Massa, S. Carpenter, 1991, Archives of neurology.

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

E. Shoubridge, B. Brais, M. Duchen, 2012, Proceedings of the National Academy of Sciences.

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

E. Shoubridge, A. Peterson, J. P. Jenuth, 1997, Nature Genetics.

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

E. Shoubridge, K. Hastings, G. Karpati, 1990, Cell.

Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts.

E. Shoubridge, Hanns Lochmüller, T. Johns, 1999, Experimental cell research.

Variable distribution of mutant mitochondria1 DNAs (tRNALeu[3243]) in tissues of symptomatic relatives with MELAS

E. Shoubridge, C. Macmillan, B. Lach, 1993, Neurology.

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy.

E. Shoubridge, F. Sasarman, G. Karpati, 2002, Human molecular genetics.

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator

Warren A. Cheung, E. Shoubridge, A. Gingras, 2016, Human mutation.

Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the NADH: coenzyme Q reductase inhibitor diphenyleneiodonium.

D. J. Hayes, E. Shoubridge, J. Clark, 1985, The Biochemical journal.

Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation

E. Shoubridge, A. Gingras, H. Antonicka, 2020, Nucleic acids research.

Serine palmitoyltransferase assembles at ER–mitochondria contact sites

E. Shoubridge, S. Bennett, Tim König, 2021, Life Science Alliance.

Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides.

E. Shoubridge, M. Redpath, B. Battersby, 2005, Human molecular genetics.

The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures.

Santiago Costantino, Peter Grutter, E. Shoubridge, 2007, Molecular biology of the cell.

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.

E. Shoubridge, H. Antonicka, F. Sasarman, 2008, Human molecular genetics.

The A 3243 G tRNALeu ( UUR ) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG 2

E. Shoubridge, H. Antonicka, F. Sasarman, 2008 .

Characterization of astrocytomas, meningiomas, and pituitary adenomas by phosphorus magnetic resonance spectroscopy.

E. Shoubridge, D. Arnold, J. Villemure, 1991, Journal of neurosurgery.

Mouse CLK-1 Is Imported into Mitochondria by an Unusual Process That Requires a Leader Sequence but No Membrane Potential*

E. Shoubridge, B. Mccright, S. Hekimi, 2001, The Journal of Biological Chemistry.

Mitochondrial RNA Granul es Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis Graphical

E. Shoubridge, H. Antonicka, 2015 .

Myoblast transfer in duchenne muscular dystrophy

George Karpati, E. Shoubridge, M. Abrahamowicz, 1993, Annals of neurology.

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

E. Shoubridge, B. Echenne, J. Yao, 2000, Human Genetics.

A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability

E. Shoubridge, A. Gingras, H. Antonicka, 2017, EMBO reports.

Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects

E. Shoubridge, S. Dimauro, D. Arnold, 2001, Annals of neurology.

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

E. Sell, E. Shoubridge, E. Farrow, 2017, Human mutation.

Adaptive optimization of the OXPHOS assembly line partially compensates lrpprc-dependent mitochondrial translation defects in mice

J. Rioux, E. Shoubridge, C. Laprise, 2021, Communications Biology.

Radioactive labeling of mitochondrial translation products in cultured cells.

E. Shoubridge, F. Sasarman, 2012, Methods in molecular biology.

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

E. Shoubridge, B. Brais, K. Boycott, 2016, Brain : a journal of neurology.

The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.

E. Shoubridge, F. Sasarman, Olga Zurita Rendón, 2014, Human molecular genetics.

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

E. Shoubridge, Woranontee Weraarpachai, J. Vissing, 2015, Journal of Medical Genetics.

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

E. Shoubridge, I. Thiffault, M. Knaap, 2014, neurogenetics.

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

E. Shoubridge, D. Auer, K. Gerbitz, 2001, Neurology.

Gene shifting: a novel therapy for mitochondrial myopathy.

E. Shoubridge, T. Taivassalo, T. Johns, 1999, Human molecular genetics.

A gated 31P NMR study of tetanic contraction in rat muscle depleted of phosphocreatine.

E. Shoubridge, G. Radda, 1987, The American journal of physiology.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

E. Shoubridge, B. Brais, Woranontee Weraarpachai, 2017, neurogenetics.

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.

E. Shoubridge, H. Antonicka, R. Rodenburg, 2010, American journal of human genetics.

The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation

E. Shoubridge, F. Sasarman, S. Fung, 2013, Molecular biology of the cell.

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

John J. Mitchell, E. Shoubridge, H. Antonicka, 2015, Human Genetics.

The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion

E. Shoubridge, H. Antonicka, A. Janer, 2023, Life Science Alliance.

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.

E. Shoubridge, B. Brais, P. McPherson, 2015, Human molecular genetics.

In vivo muscle magnetic resonance spectroscopy in the clinical investigation of mitochondria1 disease

P. Matthews, E. Shoubridge, D. Arnold, 1991, Neurology.

Myophosphorylase gene transfer in McArdle’s disease myoblasts in vitro

G. Pari, E. Shoubridge, S. Dimauro, 1999, Neurology.

In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalomyopathy (MERRF)

E. Shoubridge, F. Andermann, S. Berkovic, 1991, Annals of neurology.

1H NMR characterization of normal human cerebrospinal fluid and the detection of methylmalonic acid in a vitamin B12 deficient patient

E. Shoubridge, D. Arnold, B. Sanctuary, 1991, NMR in biomedicine.

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

E. Shoubridge, I. Thiffault, M. Knaap, 2014, neurogenetics.

ESYT1 tethers the endoplasmic reticulum to mitochondria and is required for mitochondrial lipid and calcium homeostasis

E. Shoubridge, A. Gingras, H. Antonicka, 2022, bioRxiv.

Intracellular Calcium Dynamics and Cellular Energetics in Ischemic NG108‐15 Cells Studied by Concurrent 31P/19F and 23Na Double‐Quantum Filtered NMR Spectroscopy

E. Shoubridge, J. Tauskela, 1996, Journal of neurochemistry.

Late‐onset mitochondrial myopathy

E. Shoubridge, S. Carpenter, G Karpati, 1995, Annals of neurology.

27 Mitochondrial Translation and Human Disease

E. Shoubridge, F. Sasarman, 2007 .

Familial myopathy with conspicuous depletion of mitochondria in muscle fibers: a morphologically distinct disease

E. Shoubridge, S. Carpenter, A. Genge, 1995, Neuromuscular Disorders.

BOLA3 and NFU1 link mitoribosome iron–sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome

E. Shoubridge, H. Antonicka, A. Janer, 2023, bioRxiv.

Nuclear Gene Defects in Respiratory Chain Disorders

E. Shoubridge, 2001, Seminars in neurology.

Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

E. Shoubridge, H. Antonicka, A. Ohlenbusch, 2006, Neuropediatrics.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.

Repopulation of ρ0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction

E. Shoubridge, I. Tein, B. Robinson, 1999, Human mutation.

Plasmodium yoelii: blood oxygen and brain function in the infected mouse.

E. Shoubridge, G. Radda, D. Weatherall, 1983, Experimental parasitology.

The Human Cytochrome c Oxidase Assembly Factors SCO1 and SCO2 Have Regulatory Roles in the Maintenan

E. Shoubridge, P. Rustin, D. Winge, 2007 .

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

E. Shoubridge, L. Zinman, A. Janer, 2023, Developmental neurobiology.

Aplastic anaemia in association with Kearns_Sayre syndrome

E. Shoubridge, G. Wong, T. Leung, 1999, Journal of Inherited Metabolic Disease.

Author Correction: A proximity-dependent biotinylation map of a human cell

E. Shoubridge, A. Gingras, H. Antonicka, 2022, Nature.

The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures.

E. Shoubridge, P. Grutter, Nela Durisic, 2007, Molecular biology of the cell.

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

E. Shoubridge, M. Baumgartner, T. Suormala, 2012, Nature Genetics.

The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.

E. Shoubridge, H. Antonicka, F. Sasarman, 2013, Cell metabolism.

Biomedicine: Replacing the cell's power plants

E. Shoubridge, 2016, Nature.

Transmission and Segregation of Mammalian Mitochondrial DNA

E. Shoubridge, 2002 .

A proximity-dependent biotinylation map of a human cell

E. Shoubridge, A. Gingras, H. Antonicka, 2021, Nature.

LDH isozyme patterns in cetaceans: evidence for a biochemical adaptation to diving.

E. Shoubridge, W. C. Leggett, J. E. Carscadden, 1976, Comparative biochemistry and physiology. B, Comparative biochemistry.

A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.

E. Shoubridge, D. Labuda, B. Brais, 2005, American journal of human genetics.

oxidase isoforms in regenerating rat skeletal muscle c Developmentally regulated expression of cytochrome

E. Shoubridge, P. Brodfuehrer, H. Antonicka, 2015 .

Something old, something new, something borrowed ...

E. Shoubridge, 2009, Cell metabolism.

SLC25A46 is in contact with lysosomes and plays a role in mitochondrial cholesterol homeostasis

E. Shoubridge, H. Antonicka, Kathleen Watt, 2024, bioRxiv.