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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
What causes mitochondrial DNA deletions in human cells?
Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM. Krishnan KJ, et al. Nat Genet. 2008 Mar;40(3):275-9. doi: 10.1038/ng.f.94. Nat Genet. 2008. PMID: 18305478 Review.
Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia.
Atanassova N, Fusté JM, Wanrooij S, Macao B, Goffart S, Bäckström S, Farge G, Khvorostov I, Larsson NG, Spelbrink JN, Falkenberg M. Atanassova N, et al. Hum Mol Genet. 2011 Mar 15;20(6):1212-23. doi: 10.1093/hmg/ddq565. Epub 2011 Jan 12. Hum Mol Genet. 2011. PMID: 21228000
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production.
Trifunovic A, Hansson A, Wredenberg A, Rovio AT, Dufour E, Khvorostov I, Spelbrink JN, Wibom R, Jacobs HT, Larsson NG. Trifunovic A, et al. Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):17993-8. doi: 10.1073/pnas.0508886102. Epub 2005 Dec 6. Proc Natl Acad Sci U S A. 2005. PMID: 16332961 Free PMC article.
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A. Tyynismaa H, et al. Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17687-92. doi: 10.1073/pnas.0505551102. Epub 2005 Nov 21. Proc Natl Acad Sci U S A. 2005. PMID: 16301523 Free PMC article.
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
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
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
Quality matters: how does mitochondrial network dynamics and quality control impact on mtDNA integrity?
Busch KB, Kowald A, Spelbrink JN. Busch KB, et al. Philos Trans R Soc Lond B Biol Sci. 2014 Jul 5;369(1646):20130442. doi: 10.1098/rstb.2013.0442. Philos Trans R Soc Lond B Biol Sci. 2014. PMID: 24864312 Free PMC article. Review.
What cost mitochondria? The maintenance of functional mitochondrial DNA within and across generations.
Aanen DK, Spelbrink JN, Beekman M. Aanen DK, et al. Philos Trans R Soc Lond B Biol Sci. 2014 Jul 5;369(1646):20130438. doi: 10.1098/rstb.2013.0438. Philos Trans R Soc Lond B Biol Sci. 2014. PMID: 24864309 Free PMC article. Review.
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