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Molecular Neurogenetics
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Link to Published Articles in PubMed

Antonicka H, Sasarman F, Nishimura T, Paupe V, Shoubridge EA.
The Mitochondrial RNA-Binding Protein GRSF1 Localizes to RNA Granules and Is Required for Posttranscriptional Mitochondrial Gene Expression.
Cell Metab. 2013 Mar 5 PDF

Leary SC, Cobine PA, Nishimura T, Verdijk RM, de Krijger R, de Coo R, Tarnopolsky MA, Winge DR, Shoubridge EA.
COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.
Mol Biol Cell. 2013 Jan 30. PDF

Fung S, Nishimura T, Sasarman F, Shoubridge EA.
The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the large mitochondrial ribosomal subunit and mitochondrial translation.
Mol Biol Cell. 2013 Feb;24(3):184-93. PDF

Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown GK, Brown RM, Majewski J, Shoubridge EA.
An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect.
Am J Hum Genet. 2012 Sep 25. PDF

Zurita Rendón O, Shoubridge EA.
Early complex I assembly defects result in rapid turnover of the ND1 subunit.
Hum Mol Genet. 2012 Jun 13. PDF

Sasarman F, Nishimura T, Thiffault I, Shoubridge EA.
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
Hum Mutat. 2012 Apr 13 PDF

Shoubridge EA.
Supersizing the mitochondrial respiratory chain.
Cell Metab. 2012 Mar 7;15(3):271-2. PDF

Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Auré K, Rötig A, Lombès A, Shoubridge EA.
Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis.
Am J Hum Genet. 2012 Jan 13;90(1):142-51.
PMID: 22243966 PDF

Sasarman F, Shoubridge EA.
Radioactive labeling of mitochondrial translation products in cultured cells.
Methods Mol Biol. 2012;837:207-17.
PMID: 22215550 PDF

Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH.
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi: 10.1016/j.ajhg.2011.08.011. Epub 2011 Sep 22.
PMID: 21944046 PDF

Sasarman F, Antonicka H, Horvath R, Shoubridge EA.
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
Hum Mol Genet. 2011 Dec 1;20(23):4634-43. Epub 2011 Sep 1.
PMID: 21890497 PDF

Jokinen R, Marttinen P, Sandell HK, Manninen T, Teerenhovi H, Wai T, Teoli D, Loredo-Osti JC, Shoubridge EA, Battersby BJ.
Gimap3 regulates tissue-specific mitochondrial DNA segregation.
PLoS Genet. 2010 Oct 14;6(10):e1001161.
PMID: 20976251 PDF

Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA.
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
Am J Hum Genet. 2010 Jul 9;87(1):115-22.
PMID: 20598281 PDF

Sasarman F, Brunel-Guitton C, Antonicka H, Wai T, Shoubridge EA; LSFC Consortium.
LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.
Mol Biol Cell. 2010 Apr;21(8):1315-23. Epub 2010 Mar 3.
PMID: 20200222. PDF

Wai T, Ao A, Zhang X, Cyr D, Dufort D, Shoubridge EA.
The Role of Mitochondrial DNA Copy Number in Mammalian Fertility.
Biol Reprod. 2010 Feb 24. PDF

Leary SC, Sasarman F.
Oxidative phosphorylation: synthesis of mitochondrially encoded proteins and assembly of individual structural subunits into functional holoenzyme complexes.
Methods Mol Biol. 2009;554:143-62. PDF

Shoubridge EA.
Developmental biology: Asexual healing.
Nature. 2009 Sep 17;461(7262):367-72.PMID: 19759608 PDF

Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmüller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA.
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
Nat Genet. 2009 Jun 7.
PMID: 19503089 PDF

Shoubridge EA.
Something old, something new, something borrowed ...
Cell Metab. 2009 Apr;9(4):307-8.
PMID: 19356711 PDF

Leary SC, Sasarman F, Nishimura T, Shoubridge EA.
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
Hum Mol Genet. 2009 Mar 31.
PMID: 19336478 PDF

Wai T, Teoli D, Shoubridge EA.
The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes.
Nat Genet. 2008 Dec;40(12):1484-8.
PMID: 19029901 PDF

Sasarman F, Antonicka H, Shoubridge EA.
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.
Hum Mol Genet. 2008 Dec 1;17(23):3697-707. Epub 2008 Aug 27.
PMID: 18753147 PDF

Eric A. Shoubridge and Timothy Wai
Sidestepping Mutational Meltdown
Science 15 February 2008 Vol 319. Summary Full-Text

Kaufman BA, Durisic N, Mativetsky JM, Costantino S, Hancock MA, Grutter P, Shoubridge EA.
The Mitochondrial Transcription Factor TFAM Coordinates the Assembly of Multiple DNA Molecules into Nucleoid-like Structures.
Mol Biol Cell. 2007 Jun 20. PDF

Brendan J Battersby & Eric A Shoubridge
Reactive oxygen species and the segregation of mtDNA sequence variants
Nature Genetics 39, 571 - 572 (2007). PDF

Shoubridge EA, Wai T.
Mitochondrial DNA and the Mammalian oocyte.
Curr Top Dev Biol. 2007;77:87-111.
PMID: 17222701 PDF

Leary SC, Cobine PA, Kaufman BA, Guercin GH, Mattman A, Palaty J, Lockitch G, Winge DR, Rustin P, Horvath R, Shoubridge EA.
The Human Cytochrome c Oxidase Assembly Factors SCO1 and SCO2 Have Regulatory Roles in the Maintenance of Cellular Copper Homeostasis.
Cell Metab. 2007 Jan. PDF

Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA.
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
Am J Hum Genet. 2006 Nov. PDF

Leary SC, Mattman A, Wai T, Koehn DC, Clarke LA, Chan S, Lomax B, Eydoux P, Vallance HD, Shoubridge EA.
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.
Mol Genet Metab. 2006 Jun 7. PDF

Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA.
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.
Hum Mol Genet. 2006 Jun 1. PDF

Ogilvie I, Kennaway NG, Shoubridge EA.
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
J Clin Invest. 2005 Oct 1. PDF

Horng YC, Leary SC, Cobine PA, Young FB, George GN, Shoubridge EA, Winge DR.
Human Sco1 and Sco2 Function as Copper-binding Proteins.
J Biol Chem. 2005 Oct 7. PDF

Battersby BJ, Redpath ME, Shoubridge EA.
Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides.
Hum Mol Genet. 2005 Sep 1. PDF

Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA.
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
N Engl J Med. 2004 Nov 11. PDF

Leary SC, Kaufman BA, Pellecchia G, Guercin GH, Mattman A, Jaksch M, Shoubridge EA.
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
Hum Mol Genet. 2004 Sep 1. PDF

Antonicka H, Ogilvie I, Taivassalo T, Anitori RP, Haller RG, Vissing J, Kennaway NG, Shoubridge EA.
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency.
J Biol Chem. 2003 Oct 31. PDF

Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA.
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.
Hum Mol Genet. 2003 Oct 15. PDF

Leary SC, Shoubridge EA.
Mitochondrial biogenesis: which part of "NO" do we understand?
Bioessays. 2003 Jun. PDF

Battersby BJ, Loredo-Osti JC, Shoubridge EA.
Nuclear genetic control of mitochondrial DNA segregation.
Nat Genet. 2003 Feb. PDF

Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA.
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
Am J Hum Genet. 2003 Jan. PDF

Shoubridge EA.
The ABCs of mitochondrial transcription.
Nat Genet. 2002 Jul. PDF

Sasarman F, Karpati G, Shoubridge EA.
Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy.
Hum Mol Genet. 2002 Jul 1. PDF