MITOMAP References for RNA Mutation A3243T

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Index PMID Date Reference
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 NA 2020 Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
3 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 .
4 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
5 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 .
6 16950816 2007 Pyle, A., Taylor, R. W., Durham, S. E., Deschauer, M., Schaefer, A. M., Samuels, D. C., Chinnery, P. F. (2007) Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation Journal of Medical Genetics . 44 (1): 69-74 .
7 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 .
8 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 .