MITOMAP References for RNA Mutation A4300G

• Casali, C., Santorelli, F. M., D'Amati, G., Bernucci, P., DeBiase, L., DiMauro, S. (1995) A novel mtDNA point mutation in maternally inherited cardiomyopathy Biochemical and Biophysical Research Communications . 213 (2): 588-593 .


• 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 .


• Taylor, R. W., Giordano, C., Davidson, M. M., d'Amati, G., Bain, H., Hayes, C. M., Leonard, H., Barron, M. J., Casali, C., Santorelli, F. M., Hirano, M., Lightowlers, R. N., DiMauro, S., Turnbull, D. M. (2003) A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy Journal of the American College of Cardiology . 41 (10): 1786-1796 .


• Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .


• 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 .


• Casali, C., d'Amati, G., Bernucci, P., DeBiase, L., Autore, C., Santorelli, F. M., Coviello, D., Gallo, P. (1999) Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid Journal of the American College of Cardiology . 33 (6): 1584-1589 .