eric shoubridge
eric shoubridge
Professor, Human Genetics, McGill University
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Cited by
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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), 337-343, 1998
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), 146-151, 1996
The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes
T Wai, D Teoli, EA Shoubridge
Nature genetics 40 (12), 1484-1488, 2008
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
JP Jenuth, AC Peterson, EA Shoubridge
Nature genetics 16 (1), 93-95, 1997
Cytochrome c oxidase deficiency
EA Shoubridge
American journal of medical genetics 106 (1), 46-52, 2001
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
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), 93-100, 2006
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
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
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
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
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
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
Mitochondrial DNA and the mammalian oocyte
EA Shoubridge, T Wai
Current topics in developmental biology 77, 87-111, 2007
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
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
W Weraarpachai, H Antonicka, F Sasarman, J Seeger, B Schrank, ...
Nature genetics 41 (7), 833-837, 2009
Ethanol: novel end product of vertebrate anaerobic metabolism
EA Shoubridge, PW Hochachka
Science 209 (4453), 308-309, 1980
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
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
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
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