MITOMAP References for Mutation T-C at 9176

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1 7668837 1995 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 .
2 9270604 1997 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 .
3 9501263 1998 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 .
4 9631394 1998 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 .
5 10862082 2000 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 .
6 20074547 2010 Mishmar, D., Zhidkov, I. (2010) Evolution and disease converge in the mitochondrion Biochimica et Biophysica Acta . 1797 (40701): 1099-1104 .
7 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 .
8 16120341 2003 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 .
9 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
10 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 .
11 20064630 2010 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 .
12 19747204 2010 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 .
13 20056103 2010 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 .
14 15753359 2005 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 .
15 20656066 2011 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 .
16 21457906 2011 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 .
17 21819970 2011 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 .
18 24153443 2013 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 .
19 24642831 2014 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 .
20 30136164 2018 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 .
21 30128709 2018 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
22 29756269 2019 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 .
23 30763462 2019 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 .
24 32042921 2020 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 .
25 31996241 2020 Schubert Baldo, M., Vilarinho, L. (2020) Molecular basis of Leigh syndrome: a current look Orphanet Journal of Rare Diseases . 15 (1): 31 .
26 31187502 2019 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 .
27 18620007 2009 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 .
28 29038134 2017 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 .
29 31625254 2019 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 .
30 19160410 2009 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 .
31 32686207 2020 Finsterer, J. (2020) Is the variant m.9176T > C in MT-ATP6 truly responsibly for Leigh syndrome? Pediatrics International . 62 (10): 1217 .
32 34037856 2021 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 .
33 28429146 2017 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 .
34 31424416 2019 Bardakjian, T., Scherer, S. S. (2019) A MT-ATP6 mutation causes a slowly progressive myeloneuropathy Journal of Neuromuscular Diseases . 6 (3): 385-387 .