Dr Helen TuppenResearch Associate
Perli E, Giordano C, Tuppen HAL, Montopoli M, Montanari A, Orlandi M, Pisano A, Catanzaro D, Caparrotta L, Musumeci B, Autore C, Morea V, Di Micco P, Campese AF, Leopizzi M, Gallo P, Francisci S, Frontali L, Taylor RW, d'Amati G. Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T > C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy .
Human Molecular Genetics 2012, 21 (1), 85-100.
Craven L, Elson JL, Irving L, Tuppen HA, Lister LM, Greggains GD, Byerley S, Murdoch AP, Herbert M, Turnbull D. Mitochondrial DNA disease: new options for prevention .
Human Molecular Genetics 2011, 20 (R2), R168-R174.
Kemp JP, Smith PM, Pyle A, Neeve VCM, Tuppen HAL, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmuller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency .
Brain 2011, 134 (1), 183-195.
Tuppen HAL, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He LP, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation .
Molecular Genetics and Metabolism 2010, 100 (4), 345-348.
Tuppen HAL, Blakely EL, Turnbull DM, Taylor RW. Mitochondrial DNA mutations and human disease .
Biochimica et Biophysica Acta: Bioenergetics 2010, 1797 (2), 113-128.
Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease .
Nature 2010, 465 (7294), 82-85.
Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZMA, Thorburn DR, McFarland R, Taylor RW. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families .
Brain 2010, 133 (10), 2952-2963.
Tuppen HAL, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW. Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations .
Journal of Medical Genetics 2008, 45 (1), 55-61.
Rorbach J, Yusoff A, Tuppen H, Abg-Kamaludin D, Chrzanowska-Lightowlers Z, Taylor R, Turnbull D, Mcfarland R, Lightowlers R. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation .
Nucleic Acids Research 2008, 36 (9), 3065-3074.
