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Mitochondrial DNA mutations and human disease.
Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Tuppen HA, et al. Among authors: turnbull dm. Biochim Biophys Acta. 2010 Feb;1797(2):113-28. doi: 10.1016/j.bbabio.2009.09.005. Epub 2009 Sep 15. Biochim Biophys Acta. 2010. PMID: 19761752 Free article. Review.
Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.
Hyslop LA, Blakeley P, Craven L, Richardson J, Fogarty NM, Fragouli E, Lamb M, Wamaitha SE, Prathalingam N, Zhang Q, O'Keefe H, Takeda Y, Arizzi L, Alfarawati S, Tuppen HA, Irving L, Kalleas D, Choudhary M, Wells D, Murdoch AP, Turnbull DM, Niakan KK, Herbert M. Hyslop LA, et al. Among authors: turnbull dm. Nature. 2016 Jun 16;534(7607):383-6. doi: 10.1038/nature18303. Epub 2016 Jun 8. Nature. 2016. PMID: 27281217 Free PMC article.
Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.
Greaves LC, Nooteboom M, Elson JL, Tuppen HA, Taylor GA, Commane DM, Arasaradnam RP, Khrapko K, Taylor RW, Kirkwood TB, Mathers JC, Turnbull DM. Greaves LC, et al. Among authors: turnbull dm. PLoS Genet. 2014 Sep 18;10(9):e1004620. doi: 10.1371/journal.pgen.1004620. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25232829 Free PMC article.
The challenges of mitochondrial replacement.
Chinnery PF, Craven L, Mitalipov S, Stewart JB, Herbert M, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. PLoS Genet. 2014 Apr 24;10(4):e1004315. doi: 10.1371/journal.pgen.1004315. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24762741 Free PMC article. No abstract available.
Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.
Rorbach J, Yusoff AA, Tuppen H, Abg-Kamaludin DP, Chrzanowska-Lightowlers ZM, Taylor RW, Turnbull DM, McFarland R, Lightowlers RN. Rorbach J, et al. Among authors: turnbull dm. Nucleic Acids Res. 2008 May;36(9):3065-74. doi: 10.1093/nar/gkn147. Epub 2008 Apr 8. Nucleic Acids Res. 2008. PMID: 18400783 Free PMC article.
600 results