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Premature ageing in mice expressing defective mitochondrial DNA polymerase.
Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Törnell J, Jacobs HT, Larsson NG. Trifunovic A, et al. Nature. 2004 May 27;429(6990):417-23. doi: 10.1038/nature02517. Nature. 2004. PMID: 15164064
Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma Cybrids.
Turner CJ, Granycome C, Hurst R, Pohler E, Juhola MK, Juhola MI, Jacobs HT, Sutherland L, Holt IJ. Turner CJ, et al. Genetics. 2005 Aug;170(4):1879-85. doi: 10.1534/genetics.105.043653. Epub 2005 Jun 8. Genetics. 2005. PMID: 15944344 Free PMC article.
Mitochondrial DNA--all things bad?
Lightowlers RN, Jacobs HT, Kajander OA. Lightowlers RN, et al. Trends Genet. 1999 Mar;15(3):91-3. doi: 10.1016/s0168-9525(98)01684-9. Trends Genet. 1999. PMID: 10203801 Review.
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C. Spelbrink JN, et al. Nat Genet. 2001 Jul;28(3):223-31. doi: 10.1038/90058. Nat Genet. 2001. PMID: 11431692
In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells.
Spelbrink JN, Toivonen JM, Hakkaart GA, Kurkela JM, Cooper HM, Lehtinen SK, Lecrenier N, Back JW, Speijer D, Foury F, Jacobs HT. Spelbrink JN, et al. J Biol Chem. 2000 Aug 11;275(32):24818-28. doi: 10.1074/jbc.M000559200. J Biol Chem. 2000. PMID: 10827171
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
Rovio A, Tiranti V, Bednarz AL, Suomalainen A, Spelbrink JN, Lecrenier N, Melberg A, Zeviani M, Poulton J, Foury F, Jacobs HT. Rovio A, et al. Eur J Hum Genet. 1999 Feb-Mar;7(2):140-6. doi: 10.1038/sj.ejhg.5200244. Eur J Hum Genet. 1999. PMID: 10196696
Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand.
Yasukawa T, Reyes A, Cluett TJ, Yang MY, Bowmaker M, Jacobs HT, Holt IJ. Yasukawa T, et al. EMBO J. 2006 Nov 15;25(22):5358-71. doi: 10.1038/sj.emboj.7601392. Epub 2006 Oct 26. EMBO J. 2006. PMID: 17066082 Free PMC article.
Response: The mitochondrial DNA replication bubble has not burst.
Holt IJ, Jacobs HT. Holt IJ, et al. Trends Biochem Sci. 2003 Jul;28(7):355-6. doi: 10.1016/S0968-0004(03)00133-6. Trends Biochem Sci. 2003. PMID: 12878001 No abstract available.
Making mitochondrial mutants.
Jacobs HT. Jacobs HT. Trends Genet. 2001 Nov;17(11):653-60. doi: 10.1016/s0168-9525(01)02480-5. Trends Genet. 2001. PMID: 11672866 Review.
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