Works by Shoubridge, Eric A.

Results: 80

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

Published in:

PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288

By:

Bayat, Vafa;
Thiffault, Isabelle;
Jaiswal, Manish;
Tétreault, Martine;
Donti, Taraka;
Sasarman, Florin;
Bernard, Geneviève;
Demers-Lamarche, Julie;
Dicaire, Marie-Josée;
Mathieu, Jean;
Vanasse, Michel;
Bouchard, Jean-Pierre;
Rioux, Marie-France;
Lourenco, Charles M.;
Zhihong Li;
Haueter, Claire;
Shoubridge, Eric A.;
Graham, Brett H.;
Brais, Bernard;
Bellen, Hugo J.

Publication type:

Article

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.

Published in:

Developmental Neurobiology (19328451), 2023, v. 83, n. 1, p. 54, doi. 10.1002/dneu.22909

By:

Petel Légaré, Virginie;
Rampal, Christian J.;
Gurberg, Tyler J. N.;
Aaltonen, Mari J.;
Janer, Alexandre;
Zinman, Lorne;
Shoubridge, Eric A.;
Armstrong, Gary A. B.

Publication type:

Article

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

Published in:

Magnetic Resonance in Medicine, 1991, v. 22, n. 2, p. 394, doi. 10.1002/mrm.1910220247

By:

Commodari, Fernando;
Sanctuary, Bryan C.;
Feindel, William;
Shoubridge, Eric A.

Publication type:

Article

ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.

Published in:

Life Science Alliance, 2024, v. 7, n. 1, p. 1, doi. 10.26508/lsa.202302335

By:

Janer, Alexandre;
Morris, Jordan L.;
Krols, Michiel;
Antonicka, Hana;
Aaltonen, Mari J.;
Zhen-Yuan Lin;
Anand, Hanish;
Gingras, Anne-Claude;
Prudent, Julien;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Life Science Alliance, 2023, v. 6, n. 6, p. 1, doi. 10.26508/lsa.202301914

By:

Schuettpelz, Jana;
Janer, Alexandre;
Antonicka, Hana;
Shoubridge, Eric A.

Publication type:

Article

Serine palmitoyltransferase assembles at ER--mitochondria contact sites.

Published in:

Life Science Alliance, 2022, v. 5, n. 2, p. 1, doi. 10.26508/lsa.202101278

By:

Aaltonen, Mari J.;
Alecu, Irina;
König, Tim;
Bennett, Steffany A. L.;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293

By:

Janer, Alexandre;
van Karnebeek, Clara DM;
Sasarman, Florin;
Antonicka, Hana;
Al Ghamdi, Malak;
Shyr, Casper;
Dunbar, Mary;
Stockler-Ispiroglu, Sylvia;
Ross, Colin J;
Vallance, Hilary;
Dionne, Janis;
Wasserman, Wyeth W;
Shoubridge, Eric A

Publication type:

Article

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

Published in:

Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386

By:

Coelho, David;
Kim, Jaeseung C;
Miousse, Isabelle R;
Fung, Stephen;
du Moulin, Marcel;
Buers, Insa;
Suormala, Terttu;
Burda, Patricie;
Frapolli, Michele;
Stucki, Martin;
Nürnberg, Peter;
Thiele, Holger;
Robenek, Horst;
Höhne, Wolfgang;
Longo, Nicola;
Pasquali, Marzia;
Mengel, Eugen;
Watkins, David;
Shoubridge, Eric A;
Majewski, Jacek

Publication type:

Article

Reply to “Reassessing evidence for a postnatal mitochondrial genetic bottleneck”.

Published in:

2010

By:

Wai, Timothy;
Shoubridge, Eric A.

Publication type:

Letter

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

Published in:

Nature Genetics, 2009, v. 41, n. 7, p. 833, doi. 10.1038/ng.390

By:

Weraarpachai, Woranontee;
Antonicka, Hana;
Sasarman, Florin;
Seeger, Jürgen;
Schrank, Bertold;
Kolesar, Jill E;
Lochmüller, Hanns;
Chevrette, Mario;
Kaufman, Brett A.;
Horvath, Rita;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Nature Genetics, 2008, v. 40, n. 12, p. 1484, doi. 10.1038/ng.258

By:

Wai, Timothy;
Teoli, Daniella;
Shoubridge, Eric A.

Publication type:

Article

Reactive oxygen species and the segregation of mtDNA sequence variants.

Published in:

2007

By:

Battersby, Brendan J;
Shoubridge, Eric A.

Publication type:

Letter

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

Published in:

2006

By:

Lerner-Ellis, Jordan P.;
Tirone, Jamie C.;
Pawelek, Peter D.;
Doré, Carole;
Atkinson, Janet L.;
Watkins, David;
Morel, Chantal F.;
Fujiwara, T. Mary;
Moras, Emily;
Hosack, Angela R.;
Dunbar, Gail V.;
Antonicka, Hana;
Forgetta, Vince;
Dobson, C. Melissa;
Leclerc, Daniel;
Gravel, Roy A.;
Shoubridge, Eric A.;
Coulton, James W.;
Lepage, Pierre;
Rommens, Johanna M.

Publication type:

Correction Notice

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

Published in:

Nature Genetics, 2006, v. 38, n. 1, p. 93, doi. 10.1038/ng1683

By:

Lerner-Ellis, Jordan P;
Tirone, Jamie C;
Pawelek, Peter D;
Doré, Carole;
Atkinson, Janet L;
Watkins, David;
Morel, Chantal F;
Fujiwara, T Mary;
Moras, Emily;
Hosack, Angela R;
Dunbar, Gail V;
Antonicka, Hana;
Forgetta, Vince;
Dobson, C Melissa;
Leclerc, Daniel;
Gravel, Roy A;
Shoubridge, Eric A;
Coulton, James W;
Lepage, Pierre;
Rommens, Johanna M

Publication type:

Article

Nuclear genetic control of mitochondrial DNA segregation.

Published in:

Nature Genetics, 2003, v. 33, n. 2, p. 183, doi. 10.1038/ng1073

By:

Battersby, Brendan J.;
Loredo-Osti, J.C.;
Shoubridge, Eric A.

Publication type:

Article

The ABcs of mitochondrial transcription.

Published in:

Nature Genetics, 2002, v. 31, n. 3, p. 227, doi. 10.1038/ng0702-227

By:

Shoubridge, Eric A.

Publication type:

Article

A debut for mito-mouse.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 132, doi. 10.1038/79832

By:

Shoubridge, Eric A

Publication type:

Article

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

Published in:

Nature Genetics, 1998, v. 20, n. 4, p. 337, doi. 10.1038/3804

By:

Zhu, Zhiqing;
Yao, Jianbo;
Johns, Timothy;
Fu, Katherine;
Bie, Isabelle De;
Macmillan, Carol;
Cuthbert, Andrew P.;
Newbold, Robert F.;
Wang, Jia-chi;
Chevrette, Mario;
Brown, Garry K.;
Brown, Ruth M.;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

2005

By:

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

Publication type:

journal article

Mitochondrial molecular genetics and human disease.

Published in:

Human Molecular Genetics, 2024, v. 33, p. R1, doi. 10.1093/hmg/ddae049

By:

Shoubridge, Eric A;
Barrientos, Antoni

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2021, v. 30, n. 8, p. 687, doi. 10.1093/hmg/ddab078

By:

Straub, Isabella R;
Weraarpachai, Woranontee;
Shoubridge, Eric A

Publication type:

Article

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.

Published in:

Molecular Human Reproduction, 2004, v. 10, n. 8, p. 621, doi. 10.1093/molehr/gah085

By:

Dean, Nicola L.;
Battersby, Brendan J.;
Ao, Asangla;
Gosden, Roger G.;
Tan, Seang Lin;
Shoubridge, Eric A.

Publication type:

Article

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.

Published in:

Molecular Human Reproduction, 2003, v. 9, n. 10, p. 631, doi. 10.1093/molehr/gag077

By:

Dean, Nicola L.;
Battersby, Brendan J.;
Ao, Asangla;
Gosden, Roger G.;
Tan, Seang Lin;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

NMR in Biomedicine, 1991, v. 4, n. 4, p. 192, doi. 10.1002/nbm.1940040407

By:

Commodari, Fernando;
Arnold, Douglas L.;
Sanctuary, Bryan C.;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1835, doi. 10.1093/hmg/ddl106

By:

Antonicka, Hana;
Sasarman, Florin;
Kennaway, Nancy G.;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2005, v. 14, n. 17, p. 2587, doi. 10.1093/hmg/ddi293

By:

Battersby, Brendan J.;
Redpath, Margaret E.;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2004, v. 13, n. 17, p. 1839, doi. 10.1093/hmg/ddh197

By:

Leary, Scot C.;
Kaufman, Brett A.;
Pellecchia, Giovanna;
Guercin, Guy-Hellen;
Mattman, Andre;
Jaksch, Michaela;
Shoubridge, Eric A.

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 20, p. 2693, doi. 10.1093/hmg/ddg284

By:

Antonicka, Hana;
Leary, Scot C.;
Guercin, Guy-Hellen;
Agar, Jeffrey N.;
Horvath, Rita;
Kennaway, Nancy G.;
Harding, Cary O.;
Jaksch, Michaela;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2002, v. 11, n. 14, p. 1669, doi. 10.1093/hmg/11.14.1669

By:

Sasarman, Florin;
Karpati, George;
Shoubridge, Eric A.

Publication type:

Article

Cytochrome c oxidasedeficiency due to mutations in SCO2, encoding amitochondrial copper-binding protein, is rescued by copper in humanmyoblasts.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 26, p. 3025, doi. 10.1093/hmg/10.26.3025

By:

Jaksch, Michaela;
Paret, Claudia;
Stucka, Rolf;
Horn, Nina;
Müller-Höcker, Josef;
Horvath, Rita;
Trepesch, Nadine;
Stecker, Gerhard;
Freisinger, Peter;
Thirion, Christian;
Müller, Juliane;
Lunkwitz, Renate;
Rödel, Gerhard;
Shoubridge, Eric A.;
Lochmüller, Hanns

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2000, v. 9, n. 5, p. 795, doi. 10.1093/hmg/9.5.795

By:

Jaksch, Michaela;
Ogilvie, Isla;
Yao, Jianbo;
Kortenhaus, Gisela;
Bresser, Hans-Georg;
Gerbitz, Klaus-Dieter;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2541, doi. 10.1093/hmg/8.13.2541

By:

Yao, Jianbo;
Shoubridge, Eric A.

Publication type:

Article

Gene shifting: a novel therapy for mitochondrial myopathy.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 6, p. 1047, doi. 10.1093/hmg/8.6.1047

By:

Taivassalo, Tanja;
Fu, Katherine;
Johns, Timothy;
Arnold, Douglas;
Karpati, George;
Shoubridge, Eric A.

Publication type:

Article

Complete Restoration of a Wild-Type mtDNA Genotype in Regenerating Muscle Fibres in a Patient with a tRNA Point Mutation and Mitochondrial Encephalomyopathy.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2239, doi. 10.1093/hmg/6.13.2239

By:

Shoubridge, Eric A.;
Johns, Timothy;
Karpati, George

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1835

By:

Fu, Katherine;
Hartlen, Rebecca;
Johns, Timothy;
Genge, Angela;
Karpati, George;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

2001

By:

Taivassalo, Tanja;
Shoubridge, Eric A.;
Chen, Jacqueline;
Kennaway, Nancy G.;
DiMauro, Salvatore;
Arnold, Douglas L.;
Haller, Ronald G.;
Taivassalo, T;
Shoubridge, E A;
Chen, J;
Kennaway, N G;
DiMauro, S;
Arnold, D L;
Haller, R G

Publication type:

journal article

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

Published in:

Annals of Neurology, 2000, v. 47, n. 2, p. 179, doi. 10.1002/1531-8249(200002)47:2<179::AID-ANA7>3.0.CO;2-Z

By:

Dubeau, François;
De Stefano, Nicola;
Zifkin, Benjamin G.;
Arnold, Douglas L.;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Annals of Neurology, 1996, v. 40, n. 5, p. 693, doi. 10.1002/ana.410400503

By:

Shoubridge, Eric A.

Publication type:

Article

Reply.

Published in:

Annals of Neurology, 1995, v. 38, n. 2, p. 274, doi. 10.1002/ana.410380226

By:

Karpati, George;
Shoubridge, Eric

Publication type:

Article

Late-onset mitochondrial myopathy.

Published in:

Annals of Neurology, 1995, v. 37, n. 1, p. 16, doi. 10.1002/ana.410370106

By:

Johnston, Wendy;
Karpati, George;
Carpenter, Stirling;
Arnold, Douglas;
Shoubridge, Eric A.

Publication type:

Article

Myoblast transfer in duchenne muscular dystrophy.

Published in:

Annals of Neurology, 1993, v. 34, n. 1, p. 8, doi. 10.1002/ana.410340105

By:

Karpati, George;
Ajdukovic, Djordje;
Arnold, Douglas;
Gledhill, Robert B.;
Guttmann, Ronald;
Holland, Paul;
Koch, Penelope A.;
Shoubridge, Eric;
Spence, Desmond;
Vanasse, Michel;
Watters, Gordon V.;
Abrahamowicz, Michael;
Duff, Catherine;
Worton, Ronald G.

Publication type:

Article

Mitochondrial dysfunction in multiple symmetrical lipomatosis.

Published in:

Annals of Neurology, 1991, v. 29, n. 5, p. 566, doi. 10.1002/ana.410290519

By:

Berkovic, Samuel F.;
Andermann, Frederick;
Shoubridge, Eric A.;
Carpenter, Stirling;
Robitaille, Yvon;
Andermann, Eva;
Melmed, Calvin;
Karpati, George

Publication type:

Article

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

Published in:

Neurogenetics, 2017, v. 18, n. 2, p. 97, doi. 10.1007/s10048-016-0506-0

By:

La Piana, Roberta;
Weraarpachai, Woranontee;
Ospina, Luis;
Tetreault, Martine;
Majewski, Jacek;
Bruce Pike, G.;
Decarie, Jean-Claude;
Tampieri, Donatella;
Brais, Bernard;
Shoubridge, Eric

Publication type:

Article

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

Published in:

Neurogenetics, 2014, v. 15, n. 3, p. 161, doi. 10.1007/s10048-014-0412-2

By:

Kashani, Alireza;
Thiffault, Isabelle;
Dilenge, Marie-Emmanuelle;
Saint-Martin, Christine;
Guerrero, Kether;
Tran, Luan;
Shoubridge, Eric;
Knaap, Marjo;
Braverman, Nancy;
Bernard, Geneviève

Publication type:

Article

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

Published in:

BioEssays, 2003, v. 25, n. 6, p. 538, doi. 10.1002/bies.10298

By:

Leary, Scot C.;
Shoubridge, Eric A.

Publication type:

Article

Mitochondrial genetics and human disease.

Published in:

BioEssays, 1996, v. 18, n. 12, p. 983, doi. 10.1002/bies.950181208

By:

Grossman, Lawrence I.,;
Shoubridge, Eric A.,

Publication type:

Article

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

Published in:

EMBO Molecular Medicine, 2016, v. 8, n. 9, p. 1019, doi. 10.15252/emmm.201506159

By:

Janer, Alexandre;
Prudent, Julien;
Paupe, Vincent;
Fahiminiya, Somayyeh;
Majewski, Jacek;
Sgarioto, Nicolas;
Des Rosiers, Christine;
Forest, Anik;
Lin, Zhen‐Yuan;
Gingras, Anne‐Claude;
Mitchell, Grant;
McBride, Heidi M;
Shoubridge, Eric A

Publication type:

Article

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

Published in:

Molecular & Cellular Biology, 2018, v. 38, n. 20, p. 1, doi. 10.1128/MCB.00412-17

By:

Rendón, Olga Zurita;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Molecular & Cellular Biology, 2016, v. 36, n. 16, p. 2132, doi. 10.1128/MCB.00066-16

By:

Rendón, Olga Zurita;
Antonicka, Hana;
Horvath, Rita;
Shoubridge, Eric A.

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 245, doi. 10.1002/(SICI)1098-1004(1999)13:3<245::AID-HUMU9>3.0.CO;2-B

By:

Raha, Sandeep;
Merante, Frank;
Shoubridge, Eric;
Myint, A. Tomoko;
Tein, Ingrid;
Benson, Lee;
Johns, Tim;
Robinson, Brian H.

Publication type:

Article