MITOMAP References for RNA Mutation T3271C

• Goto, Y., Nonaka, I., Horai, S. (1991) A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) Biochimica et Biophysica Acta . 1097 (3): 238-240 .


• Hayashi, J., Ohta, S., Takai, D., Miyabayashi, S., Sakuta, R., Goto, Y., Nonaka, I. (1993) Accumulation of mtDNA with a mutation at position 3271 in tRNALeu(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function Biochemical and Biophysical Research Communications . 197 (3): 1049-1055 .


• Sakuta, R., Goto, Y., Horai, S., Nonaka, I. (1993) Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study Journal of the Neurological Sciences . 115 (2): 158-160 .


• Tokunaga, M., Mita, S., Sakuta, R., Nonaka, I., Araki, S. (1993) Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Annals of Neurology . 33 (3): 275-280 .


• Goto, Y. (1995) Clinical features of MELAS and mitochondrial DNA mutations Muscle and Nerve . 3 (12): S107-S112 .


• Koga, Y., Davidson, M., Schon, E. A., King, M. P. (1995) Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene Muscle and Nerve . 3 (23): S119-123 .


• Takeda, A., Chiba, S., Takaaki, I., Tanamura, A., Yamaguchi, Y., Takeda, N. (1998) Cell cycle of myocytes of cardiac and skeletal muscle in mitochondrial myopathy Japanese Circulation Journal . 62 (9): 695-699 .


• Rossmanith, W. and Karwan, R. M. (1998) Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases FEBS Letters . 433 (3): 269-274 .


• Yasukawa, T., Suzuki, T., Ohta, S., Watanabe, K. (2002) Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations Mitochondrion . 2 (40545): 129-141 .


• 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 .


• Wittenhagen, L. M., Roy, M. D., Kelley, S. O. (2003) The pathogenic U3271C human mitochondrial tRNA(Leu(UUR)) mutation disrupts a fragile anticodon stem Nucleic Acids Research . 31 (2): 596-601 .


• Tay, S. K., Shanske, S., Crowe, C., Shanske, A., Schafer, I., Pancrudo, J., Lu, J., Bonilla, E., DiMauro, S. (2005) Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA Journal of Child Neurology . 20 (2): 142-146 .


• Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J., Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America . 102 (20): 7127-7132 .


• 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 .


• Lim, K. S., Naviaux, R. K., Wong, S., Haas, R. H. (2008) Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation Journal of Molecular Diagnostics . 10 (1): 102-108 .


• Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .


• 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 .


• Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N., Galanaud, D., Chabrol, B., Paquis-Flucklinger, V., Grevent, D., Edvardson, S., Steffann, J., Funalot, B., Villeneuve, N., Valayannopoulos, V., de Lonlay, P., Desguerre, I., Brunelle, F., Bonnefont, J. P., Rotig, A., Munnich, A., Boddaert, N. (2011) A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Journal of Medical Genetics . 48 (1): 16-23 .