MITOMAP References for Variant T-C at 9185

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1 16217706 2005 Moslemi, A. R., Darin, N., Tulinius, M., Oldfors, A., Holme, E. (2005) Two new mutations in the MTATP6 gene associated with Leigh syndrome Neuropediatrics . 36 (5): 314-8 .
2 17352390 2007 Castagna, A. E., Addis, J., McInnes, R. R., Clarke, J. T., Ashby, P., Blaser, S., Robinson, B. H. (2007) Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA American Journal of Medical Genetics . 143A (8): 808-816 .
3 18461509 2007 Childs, A. M., Hutchin, T., Pysden, K., Highet, L., Bamford, J., Livingston, J., Crow, Y. J. (2007) Variable phenotype including Leigh Syndrome with a 9185T>C mutation in the mtATP6 gene Neuropediatrics . 38 (6): 313-316 .
4 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 .
5 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 .
6 20546952 2010 Saneto, R. P., Singh, K. K. (2010) Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C Mitochondrion . 10 (5): 567-572 .
7 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 .
8 21473984 2011 Gigarel, N., Hesters, L., Samuels, D. C., Monnot, S., Burlet, P., Kerbrat, V., Lamazou, F., Benachi, A., Frydman, R., Feingold, J., Rotig, A., Munnich, A., Bonnefont, J. P., Frydman, N., Steffann, J. (2011) Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans American Journal of Human Genetics . 88 (4): 494-498 .
9 22577227 2012 Pfeffer, G., Blakely, E. L., Alston, C. L., Hassani, A., Boggild, M., Horvath, R., Samuels, D. C., Taylor, R. W., Chinnery, P. F. (2012) Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations Journal of Neurology, Neurosurgery and Psychiatry 83 (9): 883-886
10 22933740 2012 Pitceathly, R. D., Murphy, S. M., Cottenie, E., Chalasani, A., Sweeney, M. G., Woodward, C., Mudanohwo, E. E., Hargreaves, I., Heales, S., Land, J., Holton, J. L., Houlden, H., Blake, J., Champion, M., Flinter, F., Robb, S. A., Page, R., Rose, M., Palace, J., Crowe, C., Longman, C., Lunn, M. P., Rahman, S., Reilly, M. M., Hanna, M. G. (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease Neurology . 79 (11): 1145-1154 .
11 23847141 2013 Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 .
12 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 .
13 24316278 2014 Kabala, A. M., Lasserre, J. P., Ackerman, S. H., di Rago, J. P., Kucharczyk, R. (2014) Defining the impact on yeast ATP synthase of two pathogenic human mitochondrial DNA mutations, T9185C and T9191C Biochimie 100 (): 200-206 .
14 25548692 2014 Brum, M., Semedo, C., Guerreiro, R., Pinto Marques, J. (2014) Motor neuron syndrome as a new phenotypic manifestation of mutation 9185T>C in gene mtATP6 Case Reports in Neurological Medicine 2014 (): 701761 .
15 27290639 2016 Pronicka, E., Piekutowska-Abramczuk, D., Ciara, E., Trubicka, J., Rokicki, D., Karkucinska-Wieckowska, A., Pajdowska, M., Jurkiewicz, E., Halat, P., Kosinska, J., Pollak, A., Rydzanicz, M., Stawinski, P., Pronicki, M., Krajewska-Walasek, M., Ploski, R. (2016) New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre Journal of Translational Medicine . 14 (1): 174 .
16 27783406 2017 Panosyan, F. B., Tawil, R., Herrmann, D. N. (2017) Episodic weakness and Charcot-Marie-Tooth disease due to a mitochondrial MT-ATP6 mutation Muscle and Nerve . 55 (6): 922-927 .
17 28132834 2017 Lorenz, C., Lesimple, P., Bukowiecki, R., Zink, A., Inak, G., Mlody, B., Singh, M., Semtner, M., Mah, N., Aure, K., Leong, M., Zabiegalov, O., Lyras, E. M., Pfiffer, V., Fauler, B., Eichhorst, J., Wiesner, B., Huebner, N., Priller, J., Mielke, T., Meierhofer, D., Izsvak, Z., Meier, J. C., Bouillaud, F., Adjaye, J., Schuelke, M., Wanker, E. E., Lombes, A., Prigione, A. (2017) Human iPSC-derived neural progenitors are an effective drug discovery model for neurological mtDNA disorders Cell Stem Cell . 20 (5): 659-674 e9 .
18 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 .
19 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 .
20 28754700 2018 Vachin, P., Adda-Herzog, E., Chalouhi, G., Elie, C., Rio, M., Rondeau, S., Gigarel, N., Jabot Hanin, F., Monnot, S., Borghese, R., Bengoa, J., Ville, Y., Rotig, A., Munnich, A., Bonnefont, J. P., Steffann, J. (2018) Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders Journal of Medical Genetics . 55 (2): 131-136 .
21 29116603 2018 Piekutowska-Abramczuk, D., Rutyna, R., Czyzyk, E., Jurkiewicz, E., Iwanicka-Pronicka, K., Rokicki, D., Stachowicz, S., Strzemecka, J., Guz, W., Gawronski, M., Kosierb, A., Ligas, J., Puchala, M., Drelich-Zbroja, A., Bednarska-Makaruk, M., Dabrowski, W., Ciara, E., Ksiazyk, J. B., Pronicka, E. (2018) Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development? Metabolic Brain Disease . 33 (1): 191-199 .
22 29228836 2018 Pelnena, D., Burnyte, B., Jankevics, E., Lace, B., Dagyte, E., Grigalioniene, K., Utkus, A., Krumina, Z., Rozentale, J., Adomaitiene, I., Stavusis, J., Pliss, L., Inashkina, I. (2018) Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis . 29 (7): 1115-1120 .
23 29467576 2018 Volobueva, A. S., Melnichenko, A. A., Grechko, A. V., Orekhov, A. N. (2018) Mitochondrial genome variability: the effect on cellular functional activity [Review] Therapeutics and Clinical Risk Management . 14 (): 237-245
24 30128709 2018 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
25 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 .
26 30461153 2019 Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J. P., Rondeau, S., Ville, Y., Munnich, A., Salomon, L. J. (2019) Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre BJOG . 126 (11): 1372-1379 .
27 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 .
28 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 .
29 31500933 2020 Takada, R., Tozawa, T., Kondo, H., Kizaki, Z., Kishita, Y., Okazaki, Y., Murayama, K., Ohtake, A., Chiyonobu, T. (2020) Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185T>C variant in the MT-ATP6 gene: Expanding the clinical spectrum Brain and Development . 42 (1): 69-72 .
30 31996241 2020 Schubert Baldo, M., Vilarinho, L. (2020) Molecular basis of Leigh syndrome: a current look Orphanet Journal of Rare Diseases . 15 (1): 31 .
31 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 .
32 32858252 2020 Rucheton, B., Jardel, C., Filaut, S., Amador, M. D. M., Maisonobe, T., Serre, I., Romero, N. B., Leonard-Louis, S., Haraux, F., Lombes, A. (2020) Homoplasmic deleterious MT-ATP6/8 mutations in adult patients Mitochondrion . 55 (): 64-77 .
33 NA 2021 Bakare, A. B., Daniel, J., Stabach, J., Rojas, A., Bell, A., Henry, B., Iyer, S. (2021) Quantifying mitochondrial dynamics in patient fibroblasts with multiple developmental defects and mitochondrial disorders International Journal of Molecular Sciences . 22 (12): 6263 .
34 33717984 2021 Loos, M. A., Gomez, G., Mayorga, L., Caraballo, R. H., Eiroa, H. D., Obregon, M. G., Rugilo, C., Lubieniecki, F., Taratuto, A. L., Saccoliti, M., Alonso, C. N., Araoz, H. V. (2021) Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients Molecular Genetics and Metabolism Reports . 27 (): 100733 .
35 34329598 2021 Palombo, F., Peron, C., Caporali, L., Iannielli, A., Maresca, A., Di Meo, I., Fiorini, C., Segnali, A., Sciacca, F. L., Rizzo, A., Levi, S., Suomalainen, A., Prigione, A., Broccoli, V., Carelli, V., Tiranti, V. (2021) The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs Stem Cell Reports . 16 (8): 1953-1967 .
36 36137325 2022 Steiner, T., Zink, A., Henke, M. T., Cecchetto, G., Buenning, M., Rossi, A., Schuelke, M., Prigione, A. (2022) RNA-based generation of iPSCs from a boy carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 and from his healthy mother Stem Cell Research . 64 (): 102920 .