MITOMAP References for RNA Mutation A8296G

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Index PMID Date Reference
1 9571188 1998 Kameoka, K., Isotani, H., Tanaka, K., Azukari, K., Fujimura, Y., Shiota, Y., Sasaki, E., Majima, M., Furukawa, K., Haginomori, S., Kitaoka, H., Ohsawa, N. (1998) Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes Biochemical and Biophysical Research Communications . 245 (2): 523-527 .
2 9802769 1998 Kameoka, K., Isotani, H., Tanaka, K., Kitaoka, H., Ohsawa, N. (1998) Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys) Diabetes Care . 21 (11): 2034-2035 .
3 9932960 1999 Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martin, M. A., Rubio, J. C., Santorelli, F. M., Zeviani, M., DiMauro, S., Garesse, R. (1999) A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers Neurology . 52 (2): 377-382 .
4 10220138 1999 Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .
5 11406419 2001 Finnila, S., Hassinen, I. E., Majamaa, K. (2001) Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region Mutation Research . 458 (40545): 31-39 .
6 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
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 12504210 2002 Sakuta, R., Honzawa, S., Murakami, N., Goto, Y., Nagai, T. (2002) Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation Pediatric Neurology . 27 (5): 397-400 .
9 15126302 2004 Guan, M. X. (2004) Molecular pathogenetic mechanism of maternally inherited deafness Annals of the New York Academy of Sciences . 1011 (-): 259-271 .
10 15477393 2004 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
11 15100439 2004 Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 .
12 18651333 2008 Ahadi, A. M., Sadeghizadeh, M., Houshmand, M., Gharagoozli, K., Banoei, M. M., Panahai, M. S. (2008) An A8296G mutation in the MT-TK gene of a patient with epilepsy - a disease-causing mutation or rare polymorphism? Neurologia i Neurochirurgia Polska . 42 (3): 263-266 .
13 10525672 1999 Isotani, H., Kameoka, K., Nagano, Y., Kitaoka, H., Ohsawa, N. (1999) Characteristic neuroimaging findings in patients with diabetes and the 8296 mitochondrial tRNA(Lys) Diabetologia . 42 (10): 1266-1267 .
14 15554876 2005 Bornstein, B., Mas, J. A., Patrono, C., Fernandez-Moreno, M. A., Gonzalez-Vioque, E., Campos, Y., Carrozzo, R., Martin, M. A., del Hoyo, P., Santorelli, F. M., Arenas, J., Garesse, R. (2005) Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene Biochemical Journal . 387 (Pt 3): 773-778 .
15 10737988 2000 Akita, Y., Koga, Y., Iwanaga, R., Wada, N., Tsubone, J., Fukuda, S., Nakamura, Y., Kato, H. (2000) Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene Human Mutation . 15 (4): 382 .
16 11857739 2002 Bornstein, B., Mas, J. A., Fernandez-Moreno, M. A., Campos, Y., Martin, M. A., del Hoyo, P., Rubio, J. C., Arenas, J., Garesse, R. (2002) The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines Human Mutation . 19 (3): 234-239 .
17 19370763 2009 Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .
18 24689073 2014 Gonzalez-Vioque, E., Bornstein, B., Gallardo, M. E., Fernandez-Moreno, M. A., Garesse, R. (2014) The pathogenicity scoring system for mitochondrial tRNA mutations revisited Molecular Genetics and Genomic Medicine . 2 (2): 107-114 .
19 32970680 2020 Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 .
20 32169613 2020 Zheng, J., Bai, X., Xiao, Y., Ji, Y., Meng, F., Aishanjiang, M., Gao, Y., Wang, H., Fu, Y., Guan, M. X. (2020) Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss Mitochondrion . 52 (): 163-172 .