MITOMAP References for RNA Mutation C3303T

Download PMID list

Index PMID Date Reference
1 7906985 1994 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 .
2 9841711 1999 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 .
3 10431114 1999 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 .
4 12609508 2003 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 .
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 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
7 16337222 2006 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 .
8 20064630 2010 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 .
9 20226758 2010 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 .
10 21364701 2011 Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 .
11 23847141 2013 Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 .