MITOMAP References for RNA Mutation A4269G

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Index PMID Date Reference
1 7518448 1994 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 .
2 1632786 1992 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 .
3 12655007 2003 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 .
4 9466989 1998 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 .
5 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
6 15005711 2004 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 .
7 11000270 2000 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 .
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 22781547 2012 Yarham, J. W., McFarland, R., Taylor, R. W., Elson, J. L. (2012) A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations Mitochondrion . 12 (5): 533-538 .