MITOMAP References for Variant C3256T at 3256

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8254046 Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A., DiMauro, S. (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot? Journal of Clinical Investigation . 92 (6): 2906-2915 .
7804130 Sato, W., Hayasaka, K., Shoji, Y., Takahashi, T., Takada, G., Saito, M., Fukawa, O., Wachi, E. (1994) A mitochondrial tRNA(Leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke- like episodes (MELAS) Biochemistry and Molecular Biology International (Sydney) . 33 (6): 1055-1061 .
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 .
16483543 Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 .
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 .
12972383 Jeppesen, T. D., Schwartz, M., Hansen, K., Danielsen, E. R., Wibrand, F., Vissing, J. (2003) Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA Journal of the Neurological Sciences . 214 (40545): 17-20 .
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 .
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 .
19941338 Wibrand, F., Jeppesen, T. D., Frederiksen, A. L., Olsen, D. B., Duno, M., Schwartz, M., Vissing, J. (2010) Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations Muscle and Nerve . 41 (5): 607-613 .
16384802 Fattal, O., Budur, K., Vaughan, A. J., Franco, K. (2006) Review of the literature on major mental disorders in adult patients with mitochondrial diseases Psychosomatics . 47 (1): 1-7 .
10953207 Amemiya, S., Hamamoto, M., Goto, Y., Komaki, H., Nishino, I., Nonaka, I., Katayama, Y. (2000) Psychosis and progressing dementia: presenting features of a mitochondriopathy Neurology . 55 (4): 600-601 .
19718780 Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .
23376095 Krag, T. O., Hauerslev, S., Jeppesen, T. D., Duno, M., Vissing, J. (2013) Muscle regeneration in mitochondrial myopathies Mitochondrion . 13 (2): 63-70 .
28951770 Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Khasanova, Z. B., Postnov, A. Y., Yarygina, E. I., Orekhov, A. N., Sobenin, I. A. (2017) Role of mitochondrial genome mutations in pathogenesis of carotid atherosclerosis Oxidative Medicine and Cellular Longevity . 2017 (): 6934394 .
29670672 Sazonova, M. A., Ryzhkova, A. I., Sinyov, V. V., Galitsyna, E. V., Melnichenko, A. A., Demakova, N. A., Sobenin, I. A., Shkurat, T. P., Orekhov, A. N. (2018) Mitochondrial genome mutations associated with myocardial infarction Disease Markers . 2018 (): 9749457 .
23395464 Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Bobryshev, Y. V., Orekhov, A. N. (2013) Changes of mitochondria in atherosclerosis: possible determinant in the pathogenesis of the disease Atherosclerosis . 227 (2): 283-288 .
23874496 Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Salonen, J. T., Bobryshev, Y. V., Orekhov, A. N. (2013) Association of mitochondrial genetic variation with carotid atherosclerosis PLoS One . 8 (7): e68070 .
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 .