Triplex real-time PCR–an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

Por Rygiel, Karolina A., Grady, John P., Taylor, Robert W., Tuppen, Helen A. L., Turnbull, Doug M.
Publicado no Sci Rep (2015)

Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle

Por Grady, John P., Murphy, Julie L., Blakely, Emma L., Haller, Ronald G., Taylor, Robert W., Turnbull, Doug M., Tuppen, Helen A. L.
Publicado no PLoS One (2014)

Mitochondrial DNA disease: new options for prevention

Por Craven, Lyndsey, Elson, Joanna L., Irving, Laura, Tuppen, Helen A., Lister, Lisa M., Greggains, Gareth D., Byerley, Samantha, Murdoch, Alison P., Herbert, Mary, Turnbull, Doug
Publicado em 2011

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis

Por Rygiel, Karolina A., Tuppen, Helen A., Grady, John P., Vincent, Amy, Blakely, Emma L., Reeve, Amy K., Taylor, Robert W., Picard, Martin, Miller, James, Turnbull, Doug M.
Publicado no Nucleic Acids Res (2016)

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

Por Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R, Hardy, Steven A, Tuppen, Helen A L, Baty, Karen, Blakely, Emma L, Bamberg, Christian, Zierz, Stephan, Deschauer, Marcus, Taylor, Robert W
Publicado no Eur J Hum Genet (2015)

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

Por Hornig-Do, Hue Tran, Montanari, Arianna, Rozanska, Agata, Tuppen, Helen A, Almalki, Abdulraheem A, Abg-Kamaludin, Dyg P, Frontali, Laura, Francisci, Silvia, Lightowlers, Robert N, Chrzanowska-Lightowlers, Zofia M
Publicado em 2014

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

Por Greggains, Gareth D., Lister, Lisa M., Tuppen, Helen A. L., Zhang, Qi, Needham, Louise H., Prathalingam, Nilendran, Hyslop, Louise A., Craven, Lyndsey, Polanski, Zbigniew, Murdoch, Alison P., Turnbull, Douglass M., Herbert, Mary
Publicado no Sci Rep (2014)

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

Por Craven, Lyndsey, Tuppen, Helen A, Greggains, Gareth D, Harbottle, Stephen J, Murphy, Julie L, Cree, Lynsey M, Murdoch, Alison P, Chinnery, Patrick F, Taylor, Robert W, Lightowlers, Robert N, Herbert, Mary, Turnbull, Douglass M
Publicado em 2010

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing

Por Greaves, Laura C., Nooteboom, Marco, Elson, Joanna L., Tuppen, Helen A. L., Taylor, Geoffrey A., Commane, Daniel M., Arasaradnam, Ramesh P., Khrapko, Konstantin, Taylor, Robert W., Kirkwood, Thomas B. L., Mathers, John C., Turnbull, Douglass M.
Publicado em 2014

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

Por Perli, Elena, Fiorillo, Annarita, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Grazioli, Paola, Campese, Antonio F., Di Micco, Patrizio, Tuppen, Helen A., Genovese, Ilaria, Poser, Elena, Preziuso, Carmela, Taylor, Robert W., Morea, Veronica, Colotti, Gianni, d'Amati, Giulia
Publicado no Hum Mol Genet (2016)

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression

Por Gorman, Grainne S., Blakely, Emma L., Hornig-Do, Hue-Tran, Tuppen, Helen A.L., Greaves, Laura C., He, Langping, Baker, Angela, Falkous, Gavin, Newman, Jane, Trenell, Michael I., Lecky, Bryan, Petty, Richard K., Turnbull, Doug M., McFarland, Robert, Taylor, Robert W.
Publicado no Clin Sci (Lond) (2015)

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

Por Perli, Elena, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Campese, Antonio F, Reyes, Aurelio, Ghezzi, Daniele, Nasca, Alessia, Tuppen, Helen A, Orlandi, Maurizia, Di Micco, Patrizio, Poser, Elena, Taylor, Robert W, Colotti, Gianni, Francisci, Silvia, Morea, Veronica, Frontali, Laura, Zeviani, Massimo, d'Amati, Giulia
Publicado em 2014

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

Por Tuppen, Helen A. L., Hogan, Vanessa E., He, Langping, Blakely, Emma L., Worgan, Lisa, Al-Dosary, Mazhor, Saretzki, Gabriele, Alston, Charlotte L., Morris, Andrew A., Clarke, Michael, Jones, Simon, Devlin, Anita M., Mansour, Sahar, Chrzanowska-Lightowlers, Zofia M. A., Thorburn, David R., McFarland, Robert, Taylor, Robert W.
Publicado em 2010

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

Por Kemp, John P., Smith, Paul M., Pyle, Angela, Neeve, Vivienne C. M., Tuppen, Helen A. L., Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Lochmüller, Hanns, McFarland, Robert, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M.A., Lightowlers, Robert N., Taylor, Robert W., Horvath, Rita
Publicado em 2011

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

Por Hyslop, Louise A., Blakeley, Paul, Craven, Lyndsey, Richardson, Jessica, Fogarty, Norah M.E., Fragouli, Elpida, Lamb, Mahdi, Wamaitha, Sissy E., Prathalingam, Nilendran, Zhang, Qi, O’Keefe, Hannah, Takeda, Yuko, Arizzi, Lucia, Alfarawati, Samer, Tuppen, Helen A., Irving, Laura, Kalleas, Dimitrios, Choudhary, Meenakshi, Wells, Dagan, Murdoch, Alison P, Turnbull, Douglass M., Niakan, Kathy K., Herbert, Mary
Publicado no Nature (2016)

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Por Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Publicado em 2009