MITOMAP References for Variant A3243T at 3243

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1 9168904 1997 Shaag, A., Saada, A., Steinberg, A., Navon, P., Elpeleg, O. N. (1997) Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T) Biochemical and Biophysical Research Communications . 233 (3): 637-639 .
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): .