MITOMAP References for RNA Mutation A4269G

• Hayashi, J., Ohta, S., Kagawa, Y., Takai, D., Miyabayashi, S., Tada, K., Fukushima, H., Inui, K., Okada, S., Goto, Y., Nonaka, I. (1994) Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes Journal of Biological Chemistry . 269 (29): 19060-19066 .


• Taniike, M., Fukushima, H., Yanagihara, I., Tsukamoto, H., Tanaka, J., Fujimura, H., Nagai, T., Sano, T., Yamaoka, K., Inui, K., Okada, S. (1992) Mitochondrial tRNAIle mutation in fatal cardiomyopathy Biochemical and Biophysical Research Communications . 186 (1): 47-53 .


• Levinger, L., Giege, R., Florentz, C. (2003) Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3' end processing efficiency in vitro Nucleic Acids Research . 31 (7): 1904-1912 .


• Degoul, F., Brule, H., Cepanec, C., Helm, M., Marsac, C., Leroux, J., Giege, R., Florentz, C. (1998) Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene Human Molecular Genetics . 7 (3): 347-354 .


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


• Hino, N., Suzuki, T., Yasukawa, T., Seio, K., Watanabe, K., Ueda, T. (2004) The pathogenic A4269G mutation in human mitochondrial tRNA(Ile) alters the T-stem structure and decreases the binding affinity for elongation factor Tu Genes to Cells: Devoted to Molecular and Cellular Mechanisms . 9 (3): 243-252 .


• Yasukawa, T., Hino, N., Suzuki, T., Watanabe, K., Ueda, T., Ohta, S. (2000) A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile) Nucleic Acids Research . 28 (19): 3779-3784 .


• 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 .