MITOMAP References for RNA Mutation A3260G

Download PMID list

Index PMID Date Reference
1 8132749 1994 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 .
2 8210299 1993 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 .
3 1677065 1991 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 .
4 7599217 1995 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 .
5 9744809 1998 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 .
6 8941275 1996 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 .
7 31965079 2020 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 .
8 33763872 2021 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 .
9 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
10 18165269 2008 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 .
11 18647627 2008 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
12 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 .
13 32167396 2020 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 .