MITOMAP References for Variant T-G at 9176

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PMID Reference
11731285 Akagi, M., Inui, K., Tsukamoto, H., Sakai, N., Muramatsu, T., Yamada, M., Matsuzaki, K., Goto, Y., Nonaka, I., Okada, S. (2002) A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome Neuromuscular Disorders 12 (1): 53-55 .
18402672 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
11245730 Carrozzo, R., Tessa, A., Vazquez-Memije, M. E., Piemonte, F., Patrono, C., Malandrini, A., Dionisi-Vici, C., Vilarinho, L., Villanova, M., Schagger, H., Federico, A., Bertini, E., Santorelli, F. M. (2001) The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome Neurology . 56 (5): 687-690 .
15176724 Carrozzo, R., Rizza, T., Lucioli, S., Pierini, R., Bertini, E., Santorelli, F. M. (2004) A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli Acta Paediatrica. Supplementum . 93 (445): 65-67 .
11119722 Carrozzo, R., Murray, J., Santorelli, F. M., Capaldi, R. A. (2000) The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli FEBS Letters . 486 (3): 297-299 .
11382202 Carrozzo, R., Murray, J., Capuano, O., Tessa, A., Chichierchia, G., Neglia, M. R., Capaldi, R. A., Santorelli, F. M. (2000) A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling Neurological Sciences . 21 (5 Suppl): S983-984 .
19875463 D'Aurelio, M., Vives-Bauza, C., Davidson, M. M., Manfredi, G. (2010) Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells Human Molecular Genetics . 19 (2): 374-386 .
30763462 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .
29307858 Larson, A. A., Balasubramaniam, S., Christodoulou, J., Burrage, L. C., Marom, R., Graham, B. H., Diaz, G. A., Glamuzina, E., Hauser, N., Heese, B., Horvath, G., Mattman, A., van Karnebeek, C., Lane Rutledge, S., Williamson, A., Estrella, L., Van Hove, J. K. L., Weisfeld-Adams, J. D. (2019) Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6 Mitochondrion . 44 (): 58-64 .
19160410 Vazquez-Memije, M. E., Rizza, T., Meschini, M. C., Nesti, C., Santorelli, F. M., Carrozzo, R. (2009) Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene Journal of Cellular Biochemistry . 106 (5): 878-886 .
29253894 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 .