MITOMAP References for Variant T-C at 9176

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18402672 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
24153443 Aure, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforet, P., Streichenberger, N., Petiot, P., Gervais-Bernard, H., Vial, C., Bedat-Millet, A. L., Drouin-Garraud, V., Bouillaud, F., Vandier, C., Fontaine, B., Lombes, A. (2013) Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations Neurology . 81 (21): 1810-1818 .
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
9270604 Campos, Y., Martin, M.A., Rubio, J.C., Solana, L.G., Garcia-Benayas, C., Terradas, J.L., Arenas, J. (1997) Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA Neurology . 49 (2): 595-597 .
9501263 Dionisi-Vici, C., Seneca, S., Zeviani, M., Fariello, G., Rimoldi, M., Bertini, E., De Meirleir, L. (1998) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene Journal of Inherited Metabolic Disease . 21 (1): 2-8 .
19370763 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 .
29756269 Dong, H. L., Ma, Y., Li, Q. F., Du, Y. C., Yang, L., Chen, S., Wu, Z. Y. (2019) Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing CNS Neuroscience and Therapeutics . 25 (1): 21-29 .
32686207 Finsterer, J. (2020) Is the variant m.9176T > C in MT-ATP6 truly responsibly for Leigh syndrome? Pediatrics International . 62 (10): 1217 .
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 .
31625254 Ichikawa, K., Tsuyusaki, Y., Shimbo, H., Goto, T. (2019) Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene Pediatrics International . 61 (10): 1055-1056 .
18620007 Kucharczyk, R., Zick, M., Bietenhader, M., Rak, M., Couplan, E., Blondel, M., Caubet, S. D., di Rago, J. P. (2009) Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches Biochimica et Biophysica Acta . 1793 (1): 186-199 .
20056103 Kucharczyk, R., Ezkurdia, N., Couplan, E., Procaccio, V., Ackerman, S. H., Blondel, M., di Rago, J. P. (2010) Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase Biochimica et Biophysica Acta . 1797 (40701): 1105-1112 .
9631394 Makino, M., Horai, S., Goto, Y., Nonaka, I. (1998) Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome Neuromuscular Disorders . 8 (40606): 149-151 .
20074547 Mishmar, D., Zhidkov, I. (2010) Evolution and disease converge in the mitochondrion Biochimica et Biophysica Acta . 1797 (40701): 1099-1104 .
16120341 Nakano, K., Ohsawa, I., Yamagata, K., Nakayama, T., Sasaki, K., Tarashima, M., Saito, K., Osawa, M., Ohta, S. (2003) Continuous culture of novel mitochondrial cells lacking nuclei Mitochondrion . 3 (1): 21-27 .
24642831 Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., McFarland, R. (2014) A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics . 22 (11): 1255-1259 .
31187502 Ng, Y. S., Martikainen, M. H., Gorman, G. S., Blain, A., Bugiardini, E., Bunting, A., Schaefer, A. M., Alston, C. L., Blakely, E. L., Sharma, S., Hughes, I., Lim, A., de Goede, C., McEntagart, M., Spinty, S., Horrocks, I., Roberts, M., Woodward, C. E., Chinnery, P. F., Horvath, R., Nesbitt, V., Fratter, C., Poulton, J., Hanna, M. G., Pitceathly, R. D. S., Taylor, R. W., Turnbull, D. M., McFarland, R. (2019) Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study Annals of Neurology . 86 (2): 310-315 .
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 .
34037856 Nolte, D., Kang, J. S., Hofmann, A., Schwaab, E., Kramer, H. H., Muller, U. (2021) Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia Journal of Neurology . 268 (12): 4866-4873 .
28429146 Ogawa, E., Shimura, M., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Ishige, M., Fuchigami, T., Yamazaki, T., Mori, M., Kohda, M., Kishita, Y., Okazaki, Y., Takahashi, S., Ohtake, A., Murayama, K. (2017) Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Journal of Inherited Metabolic Disease . 40 (5): 685-693 .
29038134 Oh, E. H., Chae, S. H., Cho, J. W., Baik, S. K., Choi, S. Y., Choi, K. D., Choi, J. H. (2017) Fatigable ptosis as an initial presentation of adult-onset Leigh syndrome Neurology . 89 (16): 1754 .
21457906 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
21819970 Ronchi, D., Bordoni, A., Cosi, A., Rizzuti, M., Fassone, E., Di Fonzo, A., Servida, M., Sciacco, M., Collotta, M., Ronzoni, M., Lucchini, V., Mattioli, M., Moggio, M., Bresolin, N., Corti, S., Comi, G. P. (2011) Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation Biochemical and Biophysical Research Communications . 412 (2): 245-248 .
10862082 Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 .
31996241 Schubert Baldo, M., Vilarinho, L. (2020) Molecular basis of Leigh syndrome: a current look Orphanet Journal of Rare Diseases . 15 (1): 31 .
15753359 Shidara, Y., Yamagata, K., Kanamori, T., Nakano, K., Kwong, J. Q., Manfredi, G., Oda, H., Ohta, S. (2005) Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis Cancer Research . 65 (5): 1655-1663 .
32042921 Stendel, C., Neuhofer, C., Floride, E., Yuqing, S., Ganetzky, R. D., Park, J., Freisinger, P., Kornblum, C., Kleinle, S., Schols, L., Distelmaier, F., Stettner, G. M., Buchner, B., Falk, M. J., Mayr, J. A., Synofzik, M., Abicht, A., Haack, T. B., Prokisch, H., Wortmann, S. B., Murayama, K., Fang, F., Klopstock, T., Group, A. T. P. S. (2020) Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration Neurology. Genetics . 6 (1): e393 .
7668837 Thyagarajan, D., Shanske, S., Vazquez-Memije, M., De Vivo, D., DiMauro, S. (1995) A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis Annals of Neurology . 38 (3): 468-472 .
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 .
19747204 Verity, C. M., Winstone, A. M., Stellitano, L., Krishnakumar, D., Will, R., McFarland, R. (2010) The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study Developmental Medicine and Child Neurology . 52 (5): 434-140 .
20656066 Verny, C., Guegen, N., Desquiret, V., Chevrollier, A., Prundean, A., Dubas, F., Cassereau, J., Ferre, M., Amati-Bonneau, P., Bonneau, D., Reynier, P., Procaccio, V. (2011) Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation Mitochondrion . 11 (1): 70-75 .
30136164 Wei, Y., Wang, L. (2018) Adult-onset Leigh syndrome with central fever and peripheral neuropathy due to mitochondrial 9176T>C mutation Neurological Sciences . 39 (12): 2225-2228 .
30128709 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
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 .