MITOMAP References for RNA Mutation T8356C

• Silvestri, G., Moraes, C.T., Shanske, S., Oh, S.J., DiMauro, S. (1992) A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged red fibers (MERRF) American Journal of Human Genetics . 51 (6): 1213-1217 .


• Zeviani, M., Muntoni, F., Savarese, N., Serra, G., Tiranti, V., Carrara, F., Mariotti, C., DiDonato, S. (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNALys gene European Journal of Human Genetics . 1 (1): 80-87 .


• Masucci, J. P., Davidson, M., Koga, Y., Schon, E. A., King, M. P. (1995) In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALysgene: two genotypes produce similar phenotypes Molecular and Cellular Biology . 15 (5): 2872-2881 .


• Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 .


• Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .


• Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 .


• de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 .


• Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .


• Nakamura, M., Yabe, I., Sudo, A., Hosoki, K., Yaguchi, H., Saitoh, S., Sasaki, H. (2010) MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes Journal of Medical Genetics . 47 (10): 659-664 .