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2 | 12729737 | 2003 | Sohm, B., Frugier, M., Brule, H., Olszak, K., Przykorska, A., Florentz, C. (2003) Towards understanding human mitochondrial leucine aminoacylation identity Journal of Molecular Biology . 328 (5): 995-1010 . |
3 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
4 | 18203188 | 2008 | Longo, N., Schrijver, I., Vogel, H., Pique, L. M., Cowan, T. M., Pasquali, M., Steinberg, G. K., Hedlund, G. L., Ernst, S. L., Gallagher, R. C., Enns, G. M. (2008) Progressive cerebral vascular degeneration with mitochondrial encephalopathy American Journal of Medical Genetics . 146 (3): 361-367 . |
5 | 20471262 | 2010 | Alston, C. L., Bender, A., Hargreaves, I. P., Mundy, H., Deshpande, C., Klopstock, T., McFarland, R., Horvath, R., Taylor, R. W. (2010) The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype Neuromuscular Disorders . 20 (6): 403-406 . |
6 | 20550934 | 2010 | Yakubovskaya, E., Mejia, E., Byrnes, J., Hambardjieva, E., Garcia-Diaz, M. (2010) Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription Cell . 141 (6): 982-993 . |
7 | 23220830 | 2012 | Czell, D., Abicht, A., Hench, J., Weber, M. (2012) Exercise-induced myalgia and rhabdomyolysis in a patient with the rare m.3243A>T mtDNA mutation BMJ Case Reports . 2012 (): bcr2012006980 . |
8 | 25504047 | 2015 | Nunes, J. B., Peixoto, J., Soares, P., Maximo, V., Carvalho, S., Pinho, S. S., Vieira, A. F., Paredes, J., Rego, A. C., Ferreira, I. L., Gomez-Lazaro, M., Sobrinho-Simoes, M., Singh, K. K., Lima, J. (2015) OXPHOS dysfunction regulates integrin-beta1 modifications and enhances cell motility and migration Human Molecular Genetics . 24 (7): 1977-1990 . |
9 | 30210801 | 2018 | Ikeda, T., Osaka, H., Shimbo, H., Tajika, M., Yamazaki, M., Ueda, A., Murayama, K., Yamagata, T. (2018) Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome Human Genome Variation . 5 (): 25 . |
10 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |
11 | 32273537 | 2020 | Miranda, S., Correia, M., Dias, A. G., Pestana, A., Soares, P., Nunes, J., Lima, J., Maximo, V., Boaventura, P. (2020) Evaluation of the role of mitochondria in the non-targeted effects of ionizing radiation using cybrid cellular models Scientific Reports . 10 (1): 6131 . |
12 | 33924034 | 2021 | Rius, R., Compton, A. G., Baker, N. L., Welch, A. E., Coman, D., Kava, M. P., Minoche, A. E., Cowley, M. J., Thorburn, D. R., Christodoulou, J. (2021) Application of genome sequencing from blood to diagnose mitochondrial diseases Genes (Basel) . 12 (4): . |