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Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
Peter B, Waddington CL, Oláhová M, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN. Peter B, et al. Among authors: taylor rw. Hum Mol Genet. 2018 May 15;27(10):1743-1753. doi: 10.1093/hmg/ddy080. Hum Mol Genet. 2018. PMID: 29518248 Free PMC article.
Treatment of mitochondrial disease.
Taylor RW, Chinnery PF, Clark KM, Lightowlers RN, Turnbull DM. Taylor RW, et al. J Bioenerg Biomembr. 1997 Apr;29(2):195-205. doi: 10.1023/a:1022646215643. J Bioenerg Biomembr. 1997. PMID: 9239544 Review.
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. Clark KM, et al. Among authors: taylor rw. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.
Nonrandom tissue distribution of mutant mtDNA.
Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Chinnery PF, et al. Among authors: taylor rw. Am J Med Genet. 1999 Aug 27;85(5):498-501. Am J Med Genet. 1999. PMID: 10405450
Peptide nucleic acid delivery to human mitochondria.
Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Chinnery PF, et al. Among authors: taylor rw. Gene Ther. 1999 Dec;6(12):1919-28. doi: 10.1038/sj.gt.3301061. Gene Ther. 1999. PMID: 10637443
Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: implications for mitochondrial DNA replication, expression and disease.
Muratovska A, Lightowlers RN, Taylor RW, Turnbull DM, Smith RA, Wilce JA, Martin SW, Murphy MP. Muratovska A, et al. Among authors: taylor rw. Nucleic Acids Res. 2001 May 1;29(9):1852-63. doi: 10.1093/nar/29.9.1852. Nucleic Acids Res. 2001. PMID: 11328868 Free PMC article.
990 results