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Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
Leary SC, Sasarman F, Nishimura T, Shoubridge EA. Leary SC, et al. Among authors: shoubridge ea. Hum Mol Genet. 2009 Jun 15;18(12):2230-40. doi: 10.1093/hmg/ddp158. Epub 2009 Mar 31. Hum Mol Genet. 2009. PMID: 19336478
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).
Boulet L, Karpati G, Shoubridge EA. Boulet L, et al. Among authors: shoubridge ea. Am J Hum Genet. 1992 Dec;51(6):1187-200. Am J Hum Genet. 1992. PMID: 1334369 Free PMC article.
Mitochondrial dysfunction in multiple symmetrical lipomatosis.
Berkovic SF, Andermann F, Shoubridge EA, Carpenter S, Robitaille Y, Andermann E, Melmed C, Karpati G. Berkovic SF, et al. Among authors: shoubridge ea. Ann Neurol. 1991 May;29(5):566-9. doi: 10.1002/ana.410290519. Ann Neurol. 1991. PMID: 1650162
Correlative multidisciplinary approach to the study of mitochondrial encephalomyopathies.
Karpati G, Arnold D, Matthews P, Carpenter S, Andermann F, Shoubridge E. Karpati G, et al. Among authors: shoubridge e. Rev Neurol (Paris). 1991;147(6-7):455-61. Rev Neurol (Paris). 1991. PMID: 1962050 Review.
Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.
Shoubridge EA, Karpati G, Hastings KE. Shoubridge EA, et al. Cell. 1990 Jul 13;62(1):43-9. doi: 10.1016/0092-8674(90)90238-a. Cell. 1990. PMID: 2163769
Mitochondrial DNA diseases: histological and cellular studies.
Shoubridge EA. Shoubridge EA. J Bioenerg Biomembr. 1994 Jun;26(3):301-10. doi: 10.1007/BF00763101. J Bioenerg Biomembr. 1994. PMID: 8077183 Review.
Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.
Jenuth JP, Peterson AC, Fu K, Shoubridge EA. Jenuth JP, et al. Among authors: shoubridge ea. Nat Genet. 1996 Oct;14(2):146-51. doi: 10.1038/ng1096-146. Nat Genet. 1996. PMID: 8841183
A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA. Fu K, et al. Among authors: shoubridge ea. Hum Mol Genet. 1996 Nov;5(11):1835-40. doi: 10.1093/hmg/5.11.1835. Hum Mol Genet. 1996. PMID: 8923013
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice.
Jenuth JP, Peterson AC, Shoubridge EA. Jenuth JP, et al. Among authors: shoubridge ea. Nat Genet. 1997 May;16(1):93-5. doi: 10.1038/ng0597-93. Nat Genet. 1997. PMID: 9140402
Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy.
Shoubridge EA, Johns T, Karpati G. Shoubridge EA, et al. Hum Mol Genet. 1997 Dec;6(13):2239-42. doi: 10.1093/hmg/6.13.2239. Hum Mol Genet. 1997. PMID: 9361028
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