MITOMAP References for Variant T-C at 10158

Download PMID list

PMID Reference
18402672 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
NA 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 .
15576045 Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M. A., Uziel, G., Zeviani, M. (2004) Clinical and molecular findings in children with complex I deficiency Biochimica et Biophysica Acta . 1659 (40577): 136-147 .
14764913 Crimi, M., Papadimitriou, A., Galbiati, S., Palamidou, P., Fortunato, F., Bordoni, A., Papandreou, U., Papadimitriou, D., Hadjigeorgiou, G. M., Drogari, E., Bresolin, N., Comi, G. P. (2004) A new mitochondrial DNA mutation in ND3 gene causing severe Leigh Syndrome with early lethality Pediatric Research . 55 (5): 842-846 .
31996177 Danhelovska, T., Kolarova, H., Zeman, J., Hansikova, H., Vaneckova, M., Lambert, L., Kucerova-Vidrova, V., Berankova, K., Honzik, T., Tesarova, M. (2020) Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I BMC Pediatr . 20 (1): 41 .
22115768 Enns, G. M., Kinsman, S. L., Perlman, S. L., Spicer, K. M., Abdenur, J. E., Cohen, B. H., Amagata, A., Barnes, A., Kheifets, V., Shrader, W. D., Thoolen, M., Blankenberg, F., Miller, G. (2012) Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Molecular Genetics and Metabolism . 105 (1): 91-102 .
27914863 Finsterer, J., Zarrouk-Mahjoub, S. (2017) Epilepsia partialis continua in MELAS/Leigh overlap syndrome Brain and Development . 39 (4): 365 .
28522224 Finsterer, J., Zarrouk-Mahjoub, S. (2017) MELAS/Leigh overlap syndrome due to the ND6 mutation m.10158T>C Brain and Development . 39 (8): 724 .
29054334 Finsterer, J., Zarrouk-Mahjoub, S. (2018) Is vatiquinone truly beneficial for Leigh syndrome? Brain and Development . 40 (5): 443. Comment on Kouga et al [PMID 28916229]; see also reply by Osaka and Kouga [PMID 29500099] .
32504279 Formichi, P., Cardone, N., Taglia, I., Cardaioli, E., Salvatore, S., Gerfo, A. L., Simoncini, C., Montano, V., Siciliano, G., Mancuso, M., Malandrini, A., Federico, A., Dotti, M. T. (2020) Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions Neurological Sciences . 41 (12): 3653-3662 .
27742419 Grosso, S., Carluccio, M. A., Cardaioli, E., Cerase, A., Malandrini, A., Romano, C., Federico, A., Dotti, M. T. (2017) Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum Brain and Development . 39 (3): 261-265. Comments: Finsterer & Zarrouk-Mahjoub 2017 [PMID 27914863] and [PMID 28522224] .
15372108 Kirby, D. M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K. M., Kirk, E. P., Boneh, A., Taylor, R. W., Dahl, H. H., Ryan, M. T., Thorburn, D. R. (2004) NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency Journal of Clinical Investigation . 114 (6): 837-845 .
28916229 Kouga, T., Takagi, M., Miyauchi, A., Shimbo, H., Iai, M., Yamashita, S., Murayama, K., Klein, M. B., Miller, G., Goto, T., Osaka, H. (2018) Japanese Leigh syndrome case treated with EPI-743 Brain and Development . 40 (2): 145-149. See comment by Finsterer & Zarrouk-Mahjoub 2018 [PMID 28916229]; also reply by Osaka and Kouga 2018 [PMID 29500099] .
14684687 Lebon, S., Chol, M., Benit, P., Mugnier, C., Chretien, D., Giurgea, I., Kern, I., Girardin, E., Hertz-Pannier, L., de Lonlay, P., Rotig, A., Rustin, P., Munnich, A. (2003) Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency Journal of Medical Genetics . 40 (12): 896-899 .
20972245 Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N., Galanaud, D., Chabrol, B., Paquis-Flucklinger, V., Grevent, D., Edvardson, S., Steffann, J., Funalot, B., Villeneuve, N., Valayannopoulos, V., de Lonlay, P., Desguerre, I., Brunelle, F., Bonnefont, J. P., Rotig, A., Munnich, A., Boddaert, N. (2011) A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Journal of Medical Genetics . 48 (1): 16-23 .
30095618 Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J., Yang, Y. L. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency Medicine (Baltimore) . 97 (32): e11606 .
14705112 McFarland, R., Kirby, D. M., Fowler, K. J., Ohtake, A., Ryan, M. T., Amor, D. J., Fletcher, J. M., Dixon, J. W., Collins, F. A., Turnbull, D. M., Taylor, R. W., Thorburn, D. R. (2004) De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency Annals of Neurology . 55 (1): 58-64 .
29237403 Mezuki, S., Fukuda, K., Matsushita, T., Fukushima, Y., Matsuo, R., Goto, Y. I., Yasukawa, T., Uchiumi, T., Kang, D., Kitazono, T., Ago, T. (2017) Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report BMC Neurology . 17 (1): 217 .
15972314 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
28050007 Mukai, M., Nagata, E., Mizuma, A., Yamano, M., Sugaya, K., Nishino, I., Goto, Y. I., Takizawa, S. (2017) Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like encephalopathy diagnosed based on the complete sequencing of mitochondrial DNA extracted from biopsied muscle without any myopathic changes Internal Medicine . 56 (1): 95-99
28883258 Mukai, M., Nagata, E. (2017) Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 mutation with a normal muscle biopsy Internal Medicine . 56 (19): 2695
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 .
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 .
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 .
29987491 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
29500099 Osaka, H., Kouga, T. (2018) Reply to the letter to the editor by Josef Finsterer and Sinda Zarrouk-Mahjoub Brain and Development . 40 (5): 444 .
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 .
17152068 Sarzi, E., Brown, M., Lebon, S., Chretien, D., Munnich, A., Rotig, A., Procaccio, V. (2006) A novel recurrent mtDNA mutation in ND3 gene causing Leigh syndrome and dystonia American Journal of Medical Genetics . 143A (1): 33-41 .
21364701 Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 .
18977334 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .
30128709 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
32371897 Yamada, Y., Somiya, K., Miyauchi, A., Osaka, H., Harashima, H. (2020) Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene Scientific Reports . 10 (1): 7511 .