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, ID Bie, C Macmillan, AP Cuthbert, ... Nature genetics 20 (4), 337-343, 1998 | 763 | 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 | 696 | 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 | 512 | 2008 |
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 | 467 | 2007 |
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 | 466 | 2010 |
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice JP Jenuth, AC Peterson, EA Shoubridge Nature genetics 16 (1), 93-95, 1997 | 454 | 1997 |
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 | 452 | 2006 |
Cytochrome c oxidase deficiency EA Shoubridge American journal of medical genetics 106 (1), 46-52, 2001 | 407 | 2001 |
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 | 397 | 2005 |
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 | 393 | 1992 |
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 | 389 | 1993 |
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 | 378 | 2003 |
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 | 343 | 2009 |
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 | 338 | 2005 |
Mitochondrial DNA and the mammalian oocyte EA Shoubridge, T Wai Current topics in developmental biology 77, 87-111, 2007 | 330 | 2007 |
Reconstitution of mitochondria derived vesicle formation demonstrates selective enrichment of oxidized cargo V Soubannier, P Rippstein, BA Kaufman, EA Shoubridge, HM McBride PloS one 7 (12), e52830, 2012 | 327 | 2012 |
Mitochondrial RNA granules are centers for posttranscriptional RNA processing and ribosome biogenesis H Antonicka, EA Shoubridge Cell reports 10 (6), 920-932, 2015 | 322 | 2015 |
A proximity-dependent biotinylation map of a human cell CD Go, JDR Knight, A Rajasekharan, B Rathod, GG Hesketh, KT Abe, ... Nature 595 (7865), 120-124, 2021 | 314 | 2021 |
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 | 307 | 1990 |
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 | 306 | 2003 |