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Genetics

D-Index
86
Citations
23432
World Ranking
1262
National Ranking
42

Research.com Recognitions

  • 2004 - Fellow of the Royal Society of Canada Academy of Science

Overview

Eric A. Shoubridge is affiliated with the Montreal Neurological Institute and Hospital in Canada. Their research primarily falls within Biochemistry, Genetics and Molecular Biology, with a focus on subfields such as Molecular Biology, Cell Biology, Clinical Biochemistry, Neurology, and Cellular and Molecular Neuroscience.

The main topics in Eric A. Shoubridge's work include Mitochondrial Function and Pathology, ATP Synthase and ATPases Research, Metabolism and Genetic Disorders, Amyotrophic Lateral Sclerosis Research, Genetic Neurodegenerative Diseases, RNA Research and Splicing, and Endoplasmic Reticulum Stress and Disease.

Frequent coauthors in Shoubridge's publications are Hana Antonická, Alexandre Janer, Anne-Claude Gingras, Mari J. Aaltonen, and Woranontee Weraarpachai.

Their work has been published frequently in venues such as bioRxiv (Cold Spring Harbor Laboratory), Nucleic Acids Research, Life Science Alliance, Nature, and Human Molecular Genetics.

Recent publications include the following papers:

  • A proximity-dependent biotinylation map of a human cell, 2021, Nature
  • A High-Density Human Mitochondrial Proximity Interaction Network, 2020, Cell Metabolism
  • Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses, 2021, Human Molecular Genetics
  • SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins, 2022, Journal of Clinical Investigation
  • The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms, 2020, The American Journal of Human Genetics

Eric A. Shoubridge was awarded the title of Fellow of the Royal Society of Canada in 2004 by the Academy of Science.

Best Publications

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

    Zhiqing Zhu;Jianbo Yao;T. Johns;K. Fu

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

    Jack P. Jenuth;Alan C. Peterson;Alan C. Peterson;Katherine Fu;Katherine Fu;Eric A. Shoubridge;Eric A. Shoubridge

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

    Timothy Wai;Daniella Teoli;Eric A Shoubridge

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

    Jordan P Lerner-Ellis;Jamie C Tirone;Jamie C Tirone;Peter D Pawelek;Carole Doré

  • Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

    Jack P. Jenuth;Alan C. Peterson;Eric A. Shoubridge;Eric A. Shoubridge

  • The Role of Mitochondrial DNA Copy Number in Mammalian Fertility

    Timothy Wai;Asangla Ao;Xiaoyun Zhang;Daniel G. Cyr

  • The Mitochondrial Transcription Factor TFAM Coordinates the Assembly of Multiple DNA Molecules into Nucleoid-like Structures

    Brett A. Kaufman;Nela Durisic;Jeffrey M. Mativetsky;Santiago Costantino

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

    Xingxing Liu;Ning Jiang;Bryan Hughes;Eve Bigras

  • Cytochrome c oxidase deficiency.

    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).

    L Boulet;G Karpati;E A Shoubridge

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

    Hana Antonicka;Andre Mattman;Christopher G. Carlson;D. Moira Glerum

  • Myoblast transfer in duchenne muscular dystrophy

    George Karpati;Djordje Ajdukovic;Douglas Arnold;Robert B. Gledhill

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

    Hana Antonicka;Eric A. Shoubridge

  • Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

    Jessie M. Cameron;Alexandre Janer;Valeriy Levandovskiy;Nevena MacKay

  • A proximity-dependent biotinylation map of a human cell.

    Christopher D. Go;Christopher D. Go;James D. R. Knight;Archita Rajasekharan;Bhavisha Rathod

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

    Isla Ogilvie;Nancy G. Kennaway;Eric A. Shoubridge

  • Mitochondrial DNA and the mammalian oocyte.

    Eric A Shoubridge;Timothy Wai

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

    Woranontee Weraarpachai;Hana Antonicka;Florin Sasarman;Florin Sasarman;Jürgen Seeger

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

    Vincent Soubannier;Peter Rippstein;Brett A. Kaufman;Eric A. Shoubridge

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

    Eric A. Shoubridge;George Karpati;Kenneth E.M. Hastings;Kenneth E.M. Hastings

Frequent Co-Authors

Douglas L. Arnold
Douglas L. Arnold Montreal Neurological Institute and Hospital
George Karpati
George Karpati Montreal Neurological Institute and Hospital
Anne-Claude Gingras
Anne-Claude Gingras Lunenfeld-Tanenbaum Research Institute
Jacek Majewski
Jacek Majewski McGill University
Rita Horvath
Rita Horvath University of Cambridge
Eva Andermann
Eva Andermann McGill University
Jianbo Yao
Jianbo Yao West Virginia University
Dennis R. Winge
Dennis R. Winge University of Utah
Hanns Lochmüller
Hanns Lochmüller University of Freiburg
Bernard Brais
Bernard Brais Montreal Neurological Institute and Hospital

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