MITOMAP References for Variant A3260G at 3260

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8132749 Mariotti, C., Tiranti, V., Carrara, F., Dallapiccola, B., DiDonato, S., Zeviani, M. (1994) Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNALeu(UUR) mutation associated with maternally inherited myopathy and cardiomyopathy Journal of Clinical Investigation . 93 (3): 1102-1107 .
8210299 Sweeney, M. G., Brockington, M., Weston, M. J., Morgan-Hughes, J. A., Harding, A. E. (1993) Mitochondrial DNA transfer RNA mutation Leu(UUR) A-G 3260: a second family with myopathy and cardiomyopathy Quarterly Journal of Medicine . 86 (7): 435-438 .
1677065 Zeviani, M., Gellera, C., Antozzi, C., Rimoldi, M., Morandi, L., Villani, F., Tiranti, V., DiDonato, S. (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR) Lancet . 338 (8760): 143-147 .
7599217 Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A., Jaksch, M. (1995) Mitochondrial diabetes mellitus: a review Biochimica et Biophysica Acta . 1271 (1): 253-260 .
9744809 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 .
8941275 Nishino, I., Komatsu, M., Kodama, S., Horai, S., Nonaka, I., Goto, Y. (1996) The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) Muscle and Nerve . 19 (12): 1603-1604 .
31965079 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
33763872 Pozzi, A., Dowling, D. K. (2021) Small mitochondrial RNAs as mediators of nuclear gene regulation, and potential implications for human health Bioessays . 43 (6): e2000265 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
18165269 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 .
18647627 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
20064630 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 .
32167396 Bulduk, B. K., Kilic, H. B., Bekircan-Kurt, C. E., Haliloglu, G., Erdem Ozdamar, S., Topaloglu, H., Kocaefe, Y. C. (2020) A novel amplification-refractory mutation system-PCR strategy to screen MT-TL1 pathogenic variants in patient repositories Genetic Testing and Molecular Biomarkers . 24 (3): 165-170 .