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Author Details

Eric A Shoubridge
McGill University
1976
178
69
Vardit Ravitsky (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36799027Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mitochondrial integrated stress response.Dev Neurobiol2023
37931956ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.Life Sci Alliance2023
37823603BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.Nucleic Acids Res2023
36977595The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.Life Sci Alliance2023
34788392NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.Brain2022
35900868SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.J Clin Invest2022
35017685Author Correction: A proximity-dependent biotinylation map of a human cell.Nature2022
34785538Serine palmitoyltransferase assembles at ER-mitochondria contact sites.Life Sci Alliance2021
35590127Cutting the Gordian Knot of a Mitochondrial Disease.Med2021
33749723Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.Hum Mol Genet2021
32652011Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation.Nucleic Acids Res2020
32032513The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.Am J Hum Genet2020
33312877Poly (A) tail length of human mitochondrial mRNAs is tissue-specific and a mutation in LRPPRC results in transcript-specific patterns of deadenylation.Mol Genet Metab Rep2020
29121267Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.Hum Mol Genet2018
30061372LONP1 Is Required for Maturation of a Subset of Mitochondrial Proteins, and Its Loss Elicits an Integrated Stress Response.Mol Cell Biol2018
30262910RNA modification landscape of the human mitochondrial tRNA<sup>Lys</sup> regulates protein synthesis.Nat Commun2018
27974379A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.EMBO Rep2017
28185376Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.Hum Mutat2017
28575497Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion.Hum Mol Genet2017
28733061Mitochondrial Replacement Therapy: The Road to the Clinic in Canada.J Obstet Gynaecol Can2017
28058511Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.Neurogenetics2017
27034357MITOCHONDRIA. Mitochondrial disease therapy from thin air?Science2016
26657514Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.Brain2016
27919076Biomedicine: Replacing the cell's power plants.Nature2016
27390132SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.EMBO Mol Med2016
27349184Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.Hum Mutat2016
27215383A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.Mol Cell Biol2016
25214534Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.Hum Mol Genet2015
26099313Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.Hum Genet2015
25911677An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.Hum Mol Genet2015
25683715Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis.Cell Rep2015
25652405The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.Hum Mol Genet2015
25604853RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.Eur J Hum Genet2015
25604084Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.J Med Genet2015
25565209CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter.Cell Metab2015
25260547Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.Hum Mol Genet2015
24952175A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.Neurogenetics2014
24838397The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.Hum Mol Genet2014
23345593COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.Mol Biol Cell2013
23878101Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.Hum Mutat2013
23473033The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.Cell Metab2013
23171548The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.Mol Biol Cell2013
23270877Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.Mol Genet Metab2013
22405063Supersizing the mitochondrial respiratory chain.Cell Metab2012
23260140MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.Cell2012
23300790Reconstitution of mitochondria derived vesicle formation demonstrates selective enrichment of oxidized cargo.PLoS One2012
23022098An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.Am J Hum Genet2012
22922874Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.Nat Genet2012
22504945A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.Hum Mutat2012
22448145Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.PLoS Biol2012
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Collaborators

School of Clinical Medicine, University of Cambridge
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Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 6
Lunenfeld-Tanenbaum Research Institute
Co-authored papers 6
Children's Hospital of Eastern Ontario
Co-authored papers 4
UK Dementia Research Institute Centre at Imperial College London
Co-authored papers 4
Hospital Reutlingen
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Princess Margaret Cancer Centre, University Health Network
Co-authored papers 1
Co-authored papers 1
Children's Hospital of Eastern Ontario (CHEO)
Co-authored papers 1
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Co-authored papers 1
University of British Columbia
Co-authored papers 1
Co-authored papers 1
Dalhousie University
Co-authored papers 1
The Hospital for Sick Children
Co-authored papers 1
University of British Colombia
Co-authored papers 1
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 1
Unit Clinical Genomics, Maastricht University
Co-authored papers 1
Co-authored papers 1
Co-authored papers 1
UCL Great Ormond Street Institute of Child Health
Co-authored papers 1
Co-authored papers 1
University of Alberta
Co-authored papers 1
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 1
Baylor College of Medicine
Co-authored papers 1
The Hastings Center
Co-authored papers 1
McMaster University Medical Center
Co-authored papers 1
Co-authored papers 1