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 | 681 | 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 | 610 | 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 | 395 | 2008 |
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice JP Jenuth, AC Peterson, EA Shoubridge Nature genetics 16 (1), 93-95, 1997 | 383 | 1997 |
Cytochrome c oxidase deficiency EA Shoubridge American journal of medical genetics 106 (1), 46-52, 2001 | 350 | 2001 |
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 | 348 | 1993 |
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 | 339 | 2006 |
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 | 334 | 1992 |
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 | 331 | 2007 |
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 | 320 | 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 | 316 | 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 | 302 | 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 | 289 | 2005 |
Mitochondrial DNA and the mammalian oocyte EA Shoubridge, T Wai Current topics in developmental biology 77, 87-111, 2007 | 273 | 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 | 271 | 1990 |
Ethanol: novel end product of vertebrate anaerobic metabolism EA Shoubridge, PW Hochachka Science 209 (4453), 308-309, 1980 | 254 | 1980 |
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 | 246 | 2000 |
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, 2009 | 243 | 2009 |
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 | 237 | 2003 |
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 | 235 | 2004 |