eric shoubridge
eric shoubridge
Professor, Human Genetics, McGill University
Verified email at ericpc.mni.mcgill.ca
TitleCited byYear
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
Z Zhu, J Yao, T Johns, K Fu, I De Bie, C Macmillan, AP Cuthbert, ...
Nature genetics 20 (4), 337, 1998
6461998
Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
JP Jenuth, AC Peterson, K Fu, EA Shoubridge
Nature genetics 14 (2), 146, 1996
5491996
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
JP Jenuth, AC Peterson, EA Shoubridge
Nature genetics 16 (1), 93, 1997
3561997
The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes
T Wai, D Teoli, EA Shoubridge
Nature genetics 40 (12), 1484, 2008
3342008
Cytochrome c oxidase deficiency
EA Shoubridge
American journal of medical genetics 106 (1), 46-52, 2001
3342001
Myoblast transfer in Duchenne muscular dystrophy
G Karpati, D Ajdukovic, D Arnold, RB Gledhill, R Guttmann, P Holland, ...
Annals of Neurology: Official Journal of the American Neurological …, 1993
3281993
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, EA Shoubridge
American journal of human genetics 51 (6), 1187, 1992
3121992
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
H Antonicka, A Mattman, CG Carlson, DM Glerum, KC Hoffbuhr, SC Leary, ...
The American Journal of Human Genetics 72 (1), 101-114, 2003
3002003
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
JP Lerner-Ellis, JC Tirone, PD Pawelek, C Doré, JL Atkinson, D Watkins, ...
Nature genetics 38 (1), 93, 2006
2842006
The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures
BA Kaufman, N Durisic, JM Mativetsky, S Costantino, MA Hancock, ...
Molecular biology of the cell 18 (9), 3225-3236, 2007
2812007
Evolutionary conservation of the clk-1-dependent mechanism of longevity: loss of mclk1 increases cellular fitness and lifespan in mice
X Liu, N Jiang, B Hughes, E Bigras, E Shoubridge, S Hekimi
Genes & development 19 (20), 2424-2434, 2005
2802005
Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease
EA Shoubridge, G Karpati, KEM Hastings
Cell 62 (1), 43-49, 1990
2711990
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
I Ogilvie, NG Kennaway, EA Shoubridge
The Journal of clinical investigation 115 (10), 2784-2792, 2005
2672005
The role of mitochondrial DNA copy number in mammalian fertility
T Wai, A Ao, X Zhang, D Cyr, D Dufort, EA Shoubridge
Biology of reproduction 83 (1), 52-62, 2010
2332010
Mitochondrial DNA and the mammalian oocyte
EA Shoubridge, T Wai
Current topics in developmental biology 77, 87-111, 2007
2322007
Ethanol: novel end product of vertebrate anaerobic metabolism
EA Shoubridge, PW Hochachka
Science 209 (4453), 308-309, 1980
2321980
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
M Jaksch, I Ogilvie, J Yao, G Kortenhaus, HG Bresser, KD Gerbitz, ...
Human molecular genetics 9 (5), 795-801, 2000
2302000
Myoclonus epilepsy and ragged-red fibres (MERRF) 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study
SF Berkovic, S Carpenter, A Evans, G Karpati, EA Shoubridge, ...
Brain 112 (5), 1231-1260, 1989
2241989
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase
SC Leary, BA Kaufman, G Pellecchia, GH Guercin, A Mattman, M Jaksch, ...
Human molecular genetics 13 (17), 1839-1848, 2004
2102004
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
H Antonicka, SC Leary, GH Guercin, JN Agar, R Horvath, NG Kennaway, ...
Human molecular genetics 12 (20), 2693-2702, 2003
2102003
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