Eric A Shoubridge, PhD - McGill University - Professor

Eric A Shoubridge

PhD

McGill University

Professor

Canada

Eric A Shoubridge, PhD - McGill University - Professor

Eric A Shoubridge

PhD

Introduction

Primary Affiliation: McGill University - Canada

Publications

76Publications

2557Reads

5Profile Views

2197PubMed Central Citations

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

Neurogenetics 2017 Apr 5;18(2):97-103. Epub 2017 Jan 5.

Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s10048-016-0506-0DOI Listing
April 2017
65 Reads
3 Citations
2.884 Impact Factor

A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.

EMBO Rep 2017 01 14;18(1):28-38. Epub 2016 Dec 14.

Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, QC, Canada

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http://dx.doi.org/10.15252/embr.201643391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210091PMC
January 2017
40 Reads
12 Citations
9.055 Impact Factor

Biomedicine: Replacing the cell's power plants.

Nature 2016 12 30;540(7632):210-211. Epub 2016 Nov 30.

Department of Human Genetics, Montreal Neurological Institute of McGill University, Montreal, Quebec H3A 2B4, Canada.

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http://dx.doi.org/10.1038/nature20483DOI Listing
December 2016
2 Reads
1 Citation
42.351 Impact Factor

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

EMBO Mol Med 2016 09 1;8(9):1019-38. Epub 2016 Sep 1.

Department of Human Genetics, McGill University, Montreal, QC, Canada Montreal Neurological Institute, McGill University, Montreal, QC, Canada

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http://dx.doi.org/10.15252/emmm.201506159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5009808PMC
September 2016
76 Reads
18 Citations
8.665 Impact Factor

A 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 Biol 2016 08 29;36(16):2132-40. Epub 2016 Jul 29.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec, Canada

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http://dx.doi.org/10.1128/MCB.00066-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968213PMC
August 2016
6 Reads
3 Citations
4.780 Impact Factor

MITOCHONDRIA. Mitochondrial disease therapy from thin air?

Science 2016 Apr 31;352(6281):31-2. Epub 2016 Mar 31.

Montreal Neurological Institute, Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1126/science.aaf5248DOI Listing
April 2016
36 Reads
2 Citations
31.480 Impact Factor

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Brain 2016 Mar 10;139(Pt 3):e19. Epub 2015 Dec 10.

2 Department of Human Genetics, McGill University, Montreal, Québec, Canada 4 McGill University and Genome Quebec Innovation Centre, Montreal, Québec, Canada

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http://dx.doi.org/10.1093/brain/awv362DOI Listing
March 2016
51 Reads
3 Citations
9.200 Impact Factor

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

Eur J Hum Genet 2015 Oct 21;23(10):1301-7. Epub 2015 Jan 21.

Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592087PMC
October 2015
91 Reads
7 Citations
4.350 Impact Factor

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

Hum Genet 2015 Sep 23;134(9):981-91. Epub 2015 Jun 23.

Department of Human Genetics, McGill University, Montreal, QC, H3A 1B1, Canada,

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http://link.springer.com/content/pdf/10.1007%2Fs00439-015-15
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http://link.springer.com/10.1007/s00439-015-1577-y
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http://dx.doi.org/10.1007/s00439-015-1577-yDOI Listing
September 2015
49 Reads
12 Citations
4.824 Impact Factor

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Hum Mol Genet 2015 Jul 24;24(14):4103-13. Epub 2015 Apr 24.

Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, QC., Canada,

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http://dx.doi.org/10.1093/hmg/ddv149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476453PMC
July 2015
46 Reads
4 Citations
6.393 Impact Factor

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

J Med Genet 2015 Mar 20;52(3):203-7. Epub 2015 Jan 20.

Department of Neurology and Neuromuscular Research Unit, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2014-102914
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http://dx.doi.org/10.1136/jmedgenet-2014-102914DOI Listing
March 2015
70 Reads
13 Citations
6.340 Impact Factor

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

Cell Rep 2015 Feb 13;10(6):920-932. Epub 2015 Feb 13.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.01.030DOI Listing
February 2015
7 Reads
44 Citations
7.210 Impact Factor

CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter.

Cell Metab 2015 Jan;21(1):109-16

Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2014.12.004DOI Listing
January 2015
17 Reads
29 Citations
17.570 Impact Factor

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Hum Mol Genet 2015 Jan 11;24(2):480-91. Epub 2014 Sep 11.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada

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http://dx.doi.org/10.1093/hmg/ddu468DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4275074PMC
January 2015
93 Reads
10 Citations
6.393 Impact Factor

The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.

Hum Mol Genet 2014 Oct 16;23(19):5159-70. Epub 2014 May 16.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC, Canada H3A 2B4

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http://dx.doi.org/10.1093/hmg/ddu239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159157PMC
October 2014
69 Reads
8 Citations
6.393 Impact Factor

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Hum Mutat 2013 Oct 12;34(10):1366-70. Epub 2013 Aug 12.

Department of Biochemistry, University of Saskatchewan, Saskatoon, Canada.

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http://dx.doi.org/10.1002/humu.22385DOI Listing
October 2013
9 Reads
9 Citations
5.144 Impact Factor

Reconstitution of mitochondria derived vesicle formation demonstrates selective enrichment of oxidized cargo.

PLoS One 2012 26;7(12):e52830. Epub 2012 Dec 26.

Montreal Neurological Institute, McGill University, Montréal, Québec, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0052830PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530470PMC
June 2013
43 Reads
64 Citations
3.234 Impact Factor

The mitochondrial RNA-binding protein GRSF1 localizes to RNA granules and is required for posttranscriptional mitochondrial gene expression.

Cell Metab 2013 Mar;17(3):386-98

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada.

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http://dx.doi.org/10.1016/j.cmet.2013.02.006DOI Listing
March 2013
12 Reads
51 Citations
17.570 Impact Factor

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.

Mol Biol Cell 2013 Mar 23;24(6):683-91. Epub 2013 Jan 23.

Department of Biochemistry, University of Saskatchewan, Saskatoon, SK, Canada.

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http://dx.doi.org/10.1091/mbc.E12-09-0705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3596241PMC
March 2013
9 Reads
18 Citations
4.470 Impact Factor

The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.

Mol Biol Cell 2013 Feb 21;24(3):184-93. Epub 2012 Nov 21.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada.

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http://dx.doi.org/10.1091/mbc.E12-09-0651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564531PMC
February 2013
66 Reads
13 Citations
4.470 Impact Factor

Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

Mol Genet Metab 2013 Feb 7;108(2):112-8. Epub 2012 Dec 7.

Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2012.11.284DOI Listing
February 2013
21 Reads
9 Citations
2.625 Impact Factor

MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.

Cell 2012 Dec;151(7):1528-41

Department for Biochemistry II, University of Göttingen, D-37073 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.cell.2012.11.053DOI Listing
December 2012
37 Reads
37 Citations
32.242 Impact Factor

Early complex I assembly defects result in rapid turnover of the ND1 subunit.

Hum Mol Genet 2012 Sep 31;21(17):3815-24. Epub 2012 May 31.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC, Canada H3A 2B4.

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http://dx.doi.org/10.1093/hmg/dds209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412381PMC
September 2012
7 Reads
16 Citations
6.393 Impact Factor

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.

Hum Mutat 2012 Aug 7;33(8):1201-6. Epub 2012 May 7.

Montreal Neurological Institute, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1002/humu.22098DOI Listing
August 2012
11 Reads
20 Citations
5.144 Impact Factor

Radioactive labeling of mitochondrial translation products in cultured cells.

Methods Mol Biol 2012 ;837:207-17

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/978-1-61779-504-6_14DOI Listing
April 2012
6 Reads
20 Citations

Supersizing the mitochondrial respiratory chain.

Cell Metab 2012 Mar;15(3):271-2

Department of Human Genetics, McGill University/MNI, Montreal, QC H3A 2B4, Canada.

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http://dx.doi.org/10.1016/j.cmet.2012.02.009DOI Listing
March 2012
3 Reads
5 Citations
17.570 Impact Factor

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.

Montreal Neurological Institute, McGill University, Montreal H3A 2B4, Canada.

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http://molecular-neurogenetics.mcgill.ca/PDF/Sasarman_HMG.pd
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http://hmg.oxfordjournals.org/content/20/23/4634.full.pdf
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddr397
Publisher Site
http://dx.doi.org/10.1093/hmg/ddr397DOI Listing
December 2011
12 Reads
24 Citations
6.393 Impact Factor

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 22;89(4):486-95. Epub 2011 Sep 22.

Genetics and Genome Biology, The Research Institute, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2011.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188835PMC
October 2011
9 Reads
68 Citations
10.931 Impact Factor

Gimap3 regulates tissue-specific mitochondrial DNA segregation.

PLoS Genet 2010 Oct 14;6(10):e1001161. Epub 2010 Oct 14.

Research Program of Molecular Neurology and Institute of Biomedicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1371/journal.pgen.1001161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954831PMC
October 2010
52 Reads
16 Citations

The role of mitochondrial DNA copy number in mammalian fertility.

Biol Reprod 2010 Jul 3;83(1):52-62. Epub 2010 Feb 3.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1095/biolreprod.109.080887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2888963PMC
July 2010
15 Reads
56 Citations
3.320 Impact Factor

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

Mol Biol Cell 2010 Apr 3;21(8):1315-23. Epub 2010 Mar 3.

Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, QC, H3A 2B4, Canada.

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http://www.molbiolcell.org/doi/10.1091/mbc.e10-01-0047
Publisher Site
http://dx.doi.org/10.1091/mbc.e10-01-0047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854090PMC
April 2010
72 Reads
88 Citations
4.470 Impact Factor

Developmental biology: Asexual healing.

Nature 2009 Sep;461(7262):354-5

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http://dx.doi.org/10.1038/461354aDOI Listing
September 2009
4 Reads
3 Citations
42.351 Impact Factor

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

Nat Genet 2009 Jul 7;41(7):833-7. Epub 2009 Jun 7.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/ng.390DOI Listing
July 2009
18 Reads
79 Citations
29.352 Impact Factor

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

Hum Mol Genet 2009 Jun 31;18(12):2230-40. Epub 2009 Mar 31.

Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, Quebec, Canada H3A 2B4.

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http://dx.doi.org/10.1093/hmg/ddp158DOI Listing
June 2009
8 Reads
49 Citations
6.393 Impact Factor

Something old, something new, something borrowed ...

Cell Metab 2009 Apr;9(4):307-8

Department of Human Genetics, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, Quebec H3A 2B4, Canada.

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http://dx.doi.org/10.1016/j.cmet.2009.03.010DOI Listing
April 2009
5 Reads
1 Citation
17.570 Impact Factor

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 27;17(23):3697-707. Epub 2008 Aug 27.

Montreal Neurological Institute, Montreal, QC, Canada.

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http://dx.doi.org/10.1093/hmg/ddn265DOI Listing
December 2008
58 Reads
34 Citations
6.393 Impact Factor

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

Nat Genet 2008 Dec;40(12):1484-8

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1038/ng.258DOI Listing
December 2008
20 Reads
104 Citations
29.352 Impact Factor

Medicine. Sidestepping mutational meltdown.

Science 2008 Feb;319(5865):914-5

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec H3A 2B4, Canada.

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http://dx.doi.org/10.1126/science.1154515DOI Listing
February 2008
6 Reads
14 Citations
31.480 Impact Factor

The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures.

Mol Biol Cell 2007 Sep 20;18(9):3225-36. Epub 2007 Jun 20.

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, H3A 2B4, Canada.

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http://dx.doi.org/10.1091/mbc.e07-05-0404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1951767PMC
September 2007
13 Reads
110 Citations
4.470 Impact Factor

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Am J Hum Genet 2007 Aug 4;81(2):383-7. Epub 2007 Jun 4.

Department of Clinical Genetics, National University Hospital Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1086/519222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950792PMC
August 2007
14 Reads
31 Citations
10.931 Impact Factor

Reactive oxygen species and the segregation of mtDNA sequence variants.

Nat Genet 2007 May;39(5):571-2; author reply 572

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http://dx.doi.org/10.1038/ng0507-571DOI Listing
May 2007
6 Reads
3 Citations
29.352 Impact Factor

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.

Pediatrics 2007 Apr;119(4):722-33

Medical Genetics Division, Centre Hospitalier Universitaire Sainte-Justine, Université de Montreal, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1542/peds.2006-1866DOI Listing
April 2007
127 Reads
23 Citations
5.473 Impact Factor

Mitochondrial DNA and the mammalian oocyte.

Curr Top Dev Biol 2007 ;77:87-111

Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada.

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http://dx.doi.org/10.1016/S0070-2153(06)77004-1DOI Listing
March 2007
7 Reads
36 Citations
4.680 Impact Factor

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

Cell Metab 2007 Jan;5(1):9-20

Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada.

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http://dx.doi.org/10.1016/j.cmet.2006.12.001DOI Listing
January 2007
20 Reads
52 Citations
17.570 Impact Factor

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.

Am J Hum Genet 2006 Nov 15;79(5):869-77. Epub 2006 Sep 15.

Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1086/508434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698578PMC
November 2006
20 Reads
49 Citations
10.931 Impact Factor

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.

Mol Genet Metab 2006 Sep-Oct;89(1-2):129-33. Epub 2006 Jun 9.

Department of Pathology and Laboratory Medicine, Children's & Women's Health Centre of British Columbia, University of British Columbia, Vancouver, BC, Canada V6H 3V4.

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http://dx.doi.org/10.1016/j.ymgme.2006.04.016DOI Listing
October 2006
23 Reads
4 Citations
2.625 Impact Factor

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 21;15(11):1835-46. Epub 2006 Apr 21.

Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1093/hmg/ddl106DOI Listing
June 2006
16 Reads
39 Citations
6.393 Impact Factor

The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.

J Biol Chem 2006 May 6;281(18):12270-6. Epub 2006 Mar 6.

Department of Medicine, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1074/jbc.M600496200DOI Listing
May 2006
10 Reads
12 Citations
4.573 Impact Factor

Human Sco1 and Sco2 function as copper-binding proteins.

J Biol Chem 2005 Oct 9;280(40):34113-22. Epub 2005 Aug 9.

Department of Medicine, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1074/jbc.M506801200DOI Listing
October 2005
21 Reads
49 Citations
4.573 Impact Factor

Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease.

Proc Natl Acad Sci U S A 2005 Oct 22;102(40):14392-7. Epub 2005 Sep 22.

Department of Neurology and Cell Biologyalysis, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1073/pnas.0502896102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1242285PMC
October 2005
23 Reads
38 Citations
9.810 Impact Factor

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

J Clin Invest 2005 Oct;115(10):2784-92

Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1172/JCI26020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1236688PMC
October 2005
39 Reads
74 Citations
13.215 Impact Factor

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

Hum Mol Genet 2005 Sep 27;14(17):2587-94. Epub 2005 Jul 27.

Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1093/hmg/ddi293DOI Listing
September 2005
13 Reads
12 Citations
6.393 Impact Factor

A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.

Am J Hum Genet 2005 Aug 13;77(2):313-7. Epub 2005 Jun 13.

Laboratoire de Neurogénétique, Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1086/432491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1224533PMC
August 2005
31 Reads
1 Citation
10.931 Impact Factor

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.

Mol Genet Metab 2005 Feb 15;84(2):176-88. Epub 2004 Dec 15.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.10.003DOI Listing
February 2005
7 Reads
13 Citations
2.625 Impact Factor

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

N Engl J Med 2004 Nov;351(20):2080-6

Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa041878DOI Listing
November 2004
33 Reads
51 Citations
55.873 Impact Factor

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

Hum Mol Genet 2004 Sep 30;13(17):1839-48. Epub 2004 Jun 30.

Montreal Neurological Institute, Department of Human Genetics, McGill University, Canada.

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http://dx.doi.org/10.1093/hmg/ddh197DOI Listing
September 2004
26 Reads
58 Citations
6.393 Impact Factor

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 26;278(44):43081-8. Epub 2003 Aug 26.

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec, Canada H3A 2B4.

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http://dx.doi.org/10.1074/jbc.M304998200DOI Listing
October 2003
115 Reads
46 Citations
4.573 Impact Factor

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 19;12(20):2693-702. Epub 2003 Aug 19.

Montreal Neurological Institute, Department of Human Genetics, McGill University, Montreal, H3A 2B4, Canada.

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http://dx.doi.org/10.1093/hmg/ddg284DOI Listing
October 2003
12 Reads
62 Citations
6.393 Impact Factor

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

Bioessays 2003 Jun;25(6):538-41

Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/bies.10298DOI Listing
June 2003
10 Reads
9 Citations
4.730 Impact Factor

Human CLK2 links cell cycle progression, apoptosis, and telomere length regulation.

J Biol Chem 2003 Jun 31;278(24):21678-84. Epub 2003 Mar 31.

Department of Biology, McGill University, Montreal, Quebec H3A 1B1, Canada.

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http://dx.doi.org/10.1074/jbc.M300286200DOI Listing
June 2003
10 Reads
9 Citations
4.573 Impact Factor

Nuclear genetic control of mitochondrial DNA segregation.

Nat Genet 2003 Feb 21;33(2):183-6. Epub 2003 Jan 21.

Montreal Neurological Institute and Department of Human Genetics, McGill University, 3801 University Street, Montreal, Quebec H3A 2B4, Canada.

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http://dx.doi.org/10.1038/ng1073DOI Listing
February 2003
29 Reads
26 Citations
29.352 Impact Factor

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

Am J Hum Genet 2003 Jan 9;72(1):101-14. Epub 2002 Dec 9.

Montreal Neurological Institute, Montreal, Quebec H3A 2B4, Canada.

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http://dx.doi.org/10.1086/345489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC378614PMC
January 2003
13 Reads
56 Citations
10.931 Impact Factor

The ABCs of mitochondrial transcription.

Nat Genet 2002 Jul;31(3):227-8

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http://www.nature.com/articles/ng0702-227
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July 2002
7 Reads
6 Citations
29.352 Impact Factor

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

Hum Mol Genet 2002 Jul;11(14):1669-81

Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada, H3A 2B4.

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July 2002
60 Reads
6 Citations
6.393 Impact Factor

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Florin Sasarman
Florin Sasarman

Montreal Neurological Institute

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Hana Antonicka
Hana Antonicka

McGill University

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Scot C Leary
Scot C Leary

University of Saskatchewan

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Jacek Majewski
Jacek Majewski

McGill University

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Tamiko Nishimura
Tamiko Nishimura

McGill University

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Woranontee Weraarpachai
Woranontee Weraarpachai

McGill University

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Timothy Wai
Timothy Wai

Institute for Genetics

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Alexandre Janer
Alexandre Janer

McGill University

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Brendan J Battersby
Brendan J Battersby

University of Helsinki

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