Tuppen HA - Search Results

1

Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations.

Greggains GD, Lister LM, Tuppen HA, Zhang Q, Needham LH, Prathalingam N, Hyslop LA, Craven L, Polanski Z, Murdoch AP, Turnbull DM, Herbert M. Greggains GD, et al. Among authors: tuppen ha. Sci Rep. 2014 Jan 24;4:3844. doi: 10.1038/srep03844. Sci Rep. 2014. PMID: 24457623 Free PMC article.

2

Homoplasmy, heteroplasmy, and mitochondrial dystonia.

McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AA, Foster SM, Tuppen HA, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. McFarland R, et al. Among authors: tuppen ha. Neurology. 2007 Aug 28;69(9):911-6. doi: 10.1212/01.wnl.0000267843.10977.4a. Neurology. 2007. PMID: 17724295

3

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.

Tuppen HA, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW. Tuppen HA, et al. J Med Genet. 2008 Jan;45(1):55-61. doi: 10.1136/jmg.2007.051185. J Med Genet. 2008. PMID: 18178636

4

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. 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.

5

Mitochondrial DNA mutations and human disease.

Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Tuppen HA, et al. 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.

6

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.

Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM. Craven L, et al. Among authors: tuppen ha. Nature. 2010 May 6;465(7294):82-5. doi: 10.1038/nature08958. Epub 2010 Apr 14. Nature. 2010. PMID: 20393463 Free PMC article.

7

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. Tuppen HA, et al. Mol Genet Metab. 2010 Aug;100(4):345-8. doi: 10.1016/j.ymgme.2010.04.010. Epub 2010 Apr 24. Mol Genet Metab. 2010. PMID: 20472482

8

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Kemp JP, et al. Among authors: tuppen ha. Brain. 2011 Jan;134(Pt 1):183-95. doi: 10.1093/brain/awq320. Epub 2010 Dec 17. Brain. 2011. PMID: 21169334 Free PMC article.

9

Mitochondrial DNA disease: new options for prevention.

Craven L, Elson JL, Irving L, Tuppen HA, Lister LM, Greggains GD, Byerley S, Murdoch AP, Herbert M, Turnbull D. Craven L, et al. Among authors: tuppen ha. Hum Mol Genet. 2011 Oct 15;20(R2):R168-74. doi: 10.1093/hmg/ddr373. Epub 2011 Aug 18. Hum Mol Genet. 2011. PMID: 21852248 Free PMC article. Review.

10

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Tuppen HA, Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H, Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R. Tuppen HA, et al. Eur J Hum Genet. 2012 Aug;20(8):897-904. doi: 10.1038/ejhg.2012.44. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378285 Free PMC article.

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