MITOMAP References for Mutation G-A at 14459

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1 8680405 1995 Brown, M.D., Torroni, A., Reckord, C.L., Wallace, D.C. (1995) Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations Human Mutation . 6 (4): 311-325 .
2 8016139 1994 Jun, A.S., Brown, M.D., Wallace, D.C. (1994) A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia Proceedings of the National Academy of Sciences of the United States of America . 91 (13): 6206-6210 .
3 NA 1994 Jun, A.S., Trounce, I.A., Brown, M.D., Shoffner, J.M., Kim, Y.L., Wallace, D.C. (1994) Marked complex I deficiency in patients harboring the np14459 ND6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy and dystonia American Journal of Human Genetics . 55 (Suppl): A225 (Abst.1311) .
4 7654063 1995 Shoffner, J.M., Brown, M.D., Stugard, C., Jun, A.S., Pollok, S., Haas, R.H., Kaufman, A., Koontz, D., Kim, Y., Graham, J., Smith, E., Dixon, J., Wallace, D.C. (1995) Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation in a complex I subunit Annals of Neurology . 38 (2): 163-169 .
5 8622678 1996 Jun, A.S., Trounce, I.A., Brown, M.D., Shoffner, J.M., Wallace, D.C. (1996) Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia Molecular and Cellular Biology . 16 (3): 771-777 .
6 7760326 1995 Riordan-Eva, P., Harding, A.E. (1995) Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations Journal of Medical Genetics . 32 (2): 81-87 .
7 10072046 1999 Carelli, V., Ghelli, A., Bucchi, L., Montagna, P., De Negri, A., Leuzzi, V., Carducci, C., Lenaz, G., Lugaresi, E., Degli Esposti, M. (1999) Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy Annals of Neurology . 45 (3): 320-328 .
8 10426138 1999 Brown, M. D. (1999) The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 165 (1): 1-5 .
9 10894222 2000 Kirby, D. M., Kahler, S. G., Freckmann, M. L., Reddihough, D., Thorburn, D. R. (2000) Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families Annals of Neurology . 48 (1): 102-104 .
10 12205655 2002 Funalot, B., Reynier, P., Vighetto, A., Ranoux, D., Bonnefont, J. P., Godinot, C., Malthiery, Y., Mas, J.L. (2002) Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy Annals of Neurology . 52 (3): 374-377 .
11 18674747 2008 Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., Chinnery, P. F. (2008) Pathogenic mitochondrial DNA mutations are common in the general population American Journal of Human Genetics . 83 (2): 254-260 .
12 22879922 2012 Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Kashani, B. H., Reynier, P., La Morgia, C., Valentino, M. L., Liguori, R., Pizza, F., Barboni, P., Sadun, F., De Negri, A., Zeviani, M., Dollfus, H., Moulignier, A., Ducos, G., Orssaud, C., Bonneau, D., Procaccio, V., Leo-Kottler, B., Fauser, S., Wissinger, B., Amati-Bonneau, P., Torroni, A., Carelli, V. (2012) Rare primary mitochondrial DNA mutations and synergistic variants in Leber's hereditary optic neuropathy PLOS One . 7 (8): e42242 .
13 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 .
14 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ .
15 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 .
16 29408632 2019 Brady, L., Sadikovic, B., Rupar, C. A., Tarnopolsky, M. A. (2019) Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation Mitochondrion . 45 (): 18-21 .
17 15126312 2004 Houshmand, M., Sharifpanah, F., Tabasi, A., Sanati, M. H., Vakilian, M., Lavasani, S. H., Joughehdoust, S. (2004) Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients Annals of the New York Academy of Sciences . 1011 (-): 345-349 .
18 14520659 2003 Kirby, D. M., Boneh, A., Chow, C. W., Ohtake, A., Ryan, M. T., Thyagarajan, D., Thorburn, D. R. (2003) Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease Annals of Neurology . 54 (4): 473-478 .
19 14735585 2004 Gropman, A., Chen, T. J., Perng, C. L., Krasnewich, D., Chernoff, E., Tifft, C., Wong, L. J. (2004) Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation American Journal of Medical Genetics . 124A (4): 377-182 .
20 14735584 2004 Tarnopolsky, M. A., Baker, S. K., Myint, T., Maxner, C. E., Robitaille, J., Robinson, B. H. (2004) Clinical variability in maternally inherited Leber hereditary optic neuropathy with the G14459A mutation American Journal of Medical Genetics . 124A (4): 372-376 .
21 15972314 2006 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 .
22 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
23 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 .
24 19001017 2009 Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 .
25 19268652 2009 Carelli, V., La Morgia, C., Valentino, M. L., Barboni, P., Ross-Cisneros, F. N., Sadun, A. A. (2009) Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders Biochimica et Biophysica Acta . 1787 (5): 518-528 .
26 21067478 2010 Bosley, T. M., Abu-Amero, K. K. (2010) Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies Ophthalmic Genetics . 31 (4): 163-172 .
27 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 .
28 21364701 2011 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 .
29 28951770 2017 Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Khasanova, Z. B., Postnov, A. Y., Yarygina, E. I., Orekhov, A. N., Sobenin, I. A. (2017) Role of mitochondrial genome mutations in pathogenesis of carotid atherosclerosis Oxidative Medicine and Cellular Longevity . 2017 (): 6934394 .
30 30095618 2018 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 .
31 29670672 2018 Sazonova, M. A., Ryzhkova, A. I., Sinyov, V. V., Galitsyna, E. V., Melnichenko, A. A., Demakova, N. A., Sobenin, I. A., Shkurat, T. P., Orekhov, A. N. (2018) Mitochondrial genome mutations associated with myocardial infarction Disease Markers . 2018 (): 9749457 .
32 23874496 2013 Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Salonen, J. T., Bobryshev, Y. V., Orekhov, A. N. (2013) Association of mitochondrial genetic variation with carotid atherosclerosis PLoS One . 8 (7): e68070 .
33 25834827 2015 Sazonova, M. A., Sinyov, V. V., Barinova, V. A., Ryzhkova, A. I., Zhelankin, A. V., Postnov, A. Y., Sobenin, I. A., Bobryshev, Y. V., Orekhov, A. N. (2015) Mosaicism of mitochondrial genetic variation in atherosclerotic lesions of the human aorta BioMed Research International . 2015 (): 825468 .
34 19714555 2009 Gutierrez, A., Saldana-Martinez, A., Garcia-Ramirez, R., Rayo-Mares, D., Carreras, M., Lopez-Perez, M. J., Ruiz-Pesini, E., Montoya, J., Montiel-Sosa, J. F. (2009) [Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family] Revue Neurologique (Paris) . 49 (5): 248-250 .
35 21749722 2011 Ronchi, D., Cosi, A., Tonduti, D., Orcesi, S., Bordoni, A., Fortunato, F., Rizzuti, M., Sciacco, M., Collotta, M., Cagdas, S., Capovilla, G., Moggio, M., Berardinelli, A., Veggiotti, P., Comi, G. P. (2011) Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report BMC Neurology . 11 (): 85 .
36 29987491 2018 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 .
37 30128709 2018 Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 .
38 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 .
39 31221418 2019 Mahoui, S., Belkhamsa, O., Ait Kaci, I., Abada Bendib, M., Castelnovo, G. (2019) Leber optic hereditary neuropathy plus dystonia Revue Neurologique (Paris) . 175 (7-8): 483-484 .
40 32045392 2020 Cui, S., Yang, L., Jiang, H., Peng, J., Shang, J., Wang, J., Zhang, X. (2020) Clinical features of Chinese sporadic Leber hereditary optic neuropathy caused by rare primary mtDNA mutations Journal of Neuro-Ophthalmology . 40 (1): 30-36 .
41 32220313 2020 Russell, O. M., Gorman, G. S., Lightowlers, R. N., Turnbull, D. M. (2020) Mitochondrial diseases: hope for the future Cell . 181 (1): 168-188 .
42 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 .
43 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 .