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E

Eric A. Shoubridge

McGill University

73H-index
225Paper Count
1.9WCitation Count
Published Papers 108
Publication Date
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Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
erramerican journal of human genetics
IF0
err2025-06-10
err0
PREAI
errHana Antonicka; Woranontee Weraarpachai; Katherine M. Szigety; Robert Kopajtich; James B. Gibson; Johan L.K. Van Hove; Marisa W. Friederich; Piervito Lopriore; Christiane Neuhofer; Roxanne A. Van Hove; Michel A. Cole; Richard Reisdorph; James T. Peterson; Katherine J. Dempsey; Rebecca D. Ganetzky; Michelangelo Mancuso; Holger Prokisch; Eric A. Shoubridge
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errSave
The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches
errNUCLEIC ACIDS RESEARCH
IF13.1
err2024-07-22
err1
errOAAI
errBrischigliaro, Michele; Kruger, Annika; Moran, J. Conor; Antonicka, Hana; Ahn, Ahram; Shoubridge, Eric A.; Rorbach, Joanna; Barrientos, Antoni
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errSave
Mitochondrial molecular genetics and human disease
errHUMAN MOLECULAR GENETICS
IF3.2
err2024-05-23
err0
errOAAI
errShoubridge, Eric A.; Barrientos, Antoni
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errSave
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis
errLIFE SCIENCE ALLIANCE
IF2.9
err2023-11-06
err8
errOAAI
errJaner, Alexandre; Morris, Jordan L.; Krols, Michiel; Antonicka, Hana; Aaltonen, Mari J.; Lin, Zhen-Yuan; Anand, Hanish; Gingras, Anne-Claude; Prudent, Julien; Shoubridge, Eric A.
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errSave
BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome
errNUCLEIC ACIDS RESEARCH
IF13.1
err2023-10-12
err6
errOAAI
errZhong, Hui; Janer, Alexandre; Khalimonchuk, Oleh; Antonicka, Hana; Shoubridge, Eric A.; Barrientos, Antoni
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errSave
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion
errLIFE SCIENCE ALLIANCE
IF2.9
err2023-03-28
err11
errOAAI
errSchuettpelz, Jana; Janer, Alexandre; Antonicka, Hana; Shoubridge, Eric A.
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errSave
A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II
errMOLECULAR AND CELLULAR BIOLOGY
IF2.7
err2023-03-17
err19
errOAAI
errRendon, Olga Zurita; Antonicka, Hana; Horvath, Rita; Shoubridge, Eric A.
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errSave
LONP1 Is Required for Maturation of a Subset of Mitochondrial Proteins, and Its Loss Elicits an Integrated Stress Response
errMOLECULAR AND CELLULAR BIOLOGY
IF2.7
err2023-03-03
err79
errOAAI
errRendon, Olga Zurita; Shoubridge, Eric A.
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errSave
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2022-09-15
err27
errOAAI
errLone, Museer A.; Aaltonen, Mari J.; Zidell, Aliza; Pedro, Helio F.; Saute, Jonas A. Morales; Mathew, Shalett; Mohassel, Payam; Bonnemann, Carsten G.; Shoubridge, Eric A.; Hornemann, Thorsten
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errSave
Serine palmitoyltransferase assembles at ER-mitochondria contact sites
errLIFE SCIENCE ALLIANCE
IF2.9
err2021-11-16
err18
errOAAI
errAaltonen, Mari J.; Alecu, Irina; Konig, Tim; Bennett, Steffany A. L.; Shoubridge, Eric A.
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errSave
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia
errBRAIN
IF11.7
err2021-11-11
err14
errOAAI
errCoutelier, Marie; Jacoupy, Maxime; Janer, Alexandre; Renaud, Flore; Auger, Nicolas; Saripella, Ganapathi-Varma; Ancien, Francois; Pucci, Fabrizio; Rooman, Marianne; Gilis, Dimitri; Lariviere, Roxanne; Sgarioto, Nicolas; Valter, Remi; Guillot-Noel, Lena; Le Ber, Isabelle; Sayah, Sabrina; Charles, Perrine; Nuemann, Astrid; Pauly, Martje G.; Helmchen, Christoph; Deininger, Natalie; Haack, Tobias B.; Brais, Bernard; Brice, Alexis; Tregouet, David-Alexandre; El Hachimi, Khalid H.; Shoubridge, Eric A.; Durr, Alexandra; Stevanin, Giovanni
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errSave
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses
errHUMAN MOLECULAR GENETICS
IF3.2
err2021-03-22
err48
errOAAI
errStraub, Isabella R.; Weraarpachai, Woranontee; Shoubridge, Eric A.
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errSave
Cutting the Gordian Knot of a Mitochondrial Disease
errMED
IF11.8
err2021-01-01
err0
errOAAI
errShoubridge, Eric A.
errShare
errSave
A High-Density Human Mitochondrial Proximity Interaction Network
errCELL METABOLISM
IF30.9
err2020-09-01
err117
errOAAI
errAntonicka, Hana; Lin, Zhen-Yuan; Janer, Alexandre; Aaltonen, Mari J.; Weraarpachai, Woranontee; Gingras, Anne-Claude; Shoubridge, Eric A.
errShare
errSave
Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation
errNUCLEIC ACIDS RESEARCH
IF13.1
err2020-07-11
err30
errOAAI
errMaiti, Priyanka; Antonicka, Hana; Gingras, Anne-Claude; Shoubridge, Eric A.; Barrientos, Antoni
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errSave
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2020-02-01
err32
errOAAI
errBoycott, Kym M.; Campeau, Philippe M.; Howley, Heather E.; Pavlidis, Paul; Rogic, Sanja; Oriel, Christine; Berman, Jason N.; Hamilton, Robert M.; Hicks, Geoffrey G.; Lipshitz, Howard D.; Masson, Jean-Yves; Shoubridge, Eric A.; Junker, Anne; Leroux, Michel R.; McMaster, Christopher R.; Michaud, Jaques L.; Turvey, Stuart E.; Dyment, David; Innes, A. Micheil; van Karnebeek, Clara D.; Lehman, Anna; Cohn, Ronald D.; MacDonald, Ian M.; Rachubinski, Richard A.; Frosk, Patrick; Vandersteen, Anthony; Wozniak, Richard W.; Pena, Izabella A.; Wen, Xiao-Yan; Lacaze-Masmonteil, Thierry; Rankin, Catharine; Hieter, Philip
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errSave
RNA modification landscape of the human mitochondrial tRNALYs regulates protein synthesis
errNATURE COMMUNICATIONS
IF15.7
err2018-09-27
err65
errOAAI
errRichter, Uwe; Evans, Molly E.; Clark, Wesley C.; Marttinen, Paula; Shoubridge, Eric A.; Suomalainen, Anu; Wredenberg, Anna; Wedell, Anna; Pan, Tao; Battersby, Brendan J.
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errSave
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS
errHUMAN MOLECULAR GENETICS
IF3.2
err2017-11-07
err62
errOAAI
errStraub, Isabella R.; Janer, Alexandre; Weraarpachai, Woranontee; Zinman, Lorne; Robertson, Janice; Rogaeva, Ekaterina; Shoubridge, Eric A.
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errSave
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene
errHUMAN MUTATION
IF3.7
err2017-03-06
err40
errOAAI
errKernohan, Kristin D.; Dyment, David A.; Pupavac, Mihaela; Cramer, Zvi; McBride, Arran; Bernard, Genevieve; Straub, Isabella; Tetreault, Martine; Hartley, Taila; Huang, Lijia; Sell, Erick; Majewski, Jacek; Rosenblatt, David S.; Shoubridge, Eric; Mhanni, Aziz; Myers, Tara; Proud, Virginia; Vergano, Samanta; Spangler, Brooke; Farrow, Emily; Kussman, Jennifer; Safina, Nicole; Saunders, Carol; Boycott, Kym M.; Thiffault, Isabelle
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errSave
A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability
errEMBO REPORTS
IF6.2
err2016-12-14
err131
errOAAI
errAntonicka, Hana; Choquet, Karine; Lin, Zhen-Yuan; Gingras, Anne-Claude; Kleinman, Claudia L.; Shoubridge, Eric A.
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errSave

Research Directions

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Co-authors
Cooperation Journals
A
Alan C. Evans
H-index: 191 · Papers: 1.2K
A
Alexis Brice
H-index: 153 · Papers: 1.2K
S
Samuel F. Berkovic
H-index: 145 · Papers: 1.1K
H
Hölger Thiele
H-index: 134 · Papers: 1.8K
M
Mark A. Tarnopolsky
H-index: 129 · Papers: 889
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