MITOMAP References for RNA Mutation C3303T

• Silvestri, G., Santorelli, F.M., Shanske, S., Whitley, C.B., Schimmenti, L.A., Smith, S.A., DiMauro, S. (1994) A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy Human Mutation . 3 (1): 37-43 .


• Goldstein, J.D., Shanske, S., Bruno, C., Perszyk, A.A. (1999) Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene Pediatric and Developmental Pathology . 2 (1): 78-85 .


• Bruno, C., Kirby, D.M., Koga, Y., Garavaglia, B., Duran, G., Santorelli, F.M., Shield, L.K., Xia, W., Shanske, S., Goldstein, J.D., Iwanaga, R., Akita, Y., Carrara, F., Davis, A., Zeviani, M., Thorburn, D.R., DiMauro, S. (1999) The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy Journal of Pediatrics . 135 (2 Pt 1): 197-202 .


• Koga, A., Koga, Y., Akita, Y., Fukiyama, R., Ueki, I., Yatsuga, S., Matsuishi, T. (2003) Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations Neuromuscular Disorders . 13 (3): 259-262 .


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


• 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 .


• Ueki, I., Koga, Y., Povalko, N., Akita, Y., Nishioka, J., Yatsuga, S., Fukiyama, R., Matsuishi, T. (2006) Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis Mitochondrion . 6 (1): 29-36 .


• 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 .


• Lebiedzinska, M., Karkucinska-Wieckowska, A., Giorgi, C., Karczmarewicz, E., Pronicka, E., Pinton, P., Duszynski, J., Pronicki, M., Wieckowski, M. R. (2010) Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders Biochimica et Biophysica Acta . 1797 (40701): 952-960 .