MITOMAP References for RNA Mutation T4336C

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1 NA 1994 Cortopassi, G.A., Hutchin, T.P. (1994) Germline inheritance of a rare mtDNA variant leads to greatly increased risk for Alzheimer's disease American Journal of Human Genetics . 55 (Suppl): A149 (abstract 857) .
2 8004796 1994 Leroy, D., Norby, S. (1994) A new human mtDNA polymorphism: tRNAGln/4336)(T-C) Clinical Genetics . 45 (2): 109-110 .
3 8104867 1993 Shoffner, J.M., Brown, M.D., Torroni, A., Lott, M.T., Cabell, M.R., Mirra, S.S., Beal, M.F., Yang, C., Gearing, M., Salvo, R., Watts, R.L., Juncos, J.L., Hansen, L.A., Crain, B.J., Fayad, M., Reckord, C.L., Wallace, D.C. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients Genomics . 17 (1): 171-184 .
4 NA 1992 Wallace, D.C., Shoffner, J.M., Brown, M.D., Torroni, A., Lott, M.T., Cabell, M. (1992) Mitochondrial DNA mutations associated with Alzheimer's and Parkinson's disease American Journal of Human Genetics . 51 (-): A30 .
5 7624338 1995 Hutchin, T., Cortopassi, G. (1995) A mitochondrial DNA clone is associated with increased risk for Alzheimer disease Proceedings of the National Academy of Sciences of the United States of America . 92 (15): 6892-6895 .
6 8741876 1996 Brown, M.D., Shoffner, J.M., Kim, Y.L., Jun, A.S., Graham, B.H., Cabell, M.F., Gurley, D.S., Wallace, D.C. (1996) Mitochondrial DNA sequence analysis of four Alzheimer's and Parkingson's disease patients American Journal of Human Genetics . 61 (3): 283-289 .
7 10680807 1999 Simon, D.K., Mayeux, R., Marder, K., Kowall, N.W., Beal, M.F., Johns, D.R. (1999) Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease Neurology . 54 (3): 703-709 .
8 8848229 1995 Wragg, M. A., Talbot, C. J., Morris, J. C., Lendon, C. L., Goate, A. M. (1995) No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant Neuroscience Letters . 201 (2): 107-110 .
9 11335700 2001 Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 .
10 15247418 2004 Coskun, P. E., Beal, M. F., Wallace, D. C. (2004) Somatic mitochondrial DNA control region mutations are prevalent in Alzheimer Disease brains Proceedings of the National Academy of Sciences of the United States of America . 101 (29): 10726-10731 .
11 9004131 1996 Tysoe, C., Robinson, D., Brayne, C., Dening, T., Paykel, E. S., Huppert, F. A., Rubinsztein, D. C. (1996) The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years Journal of Medical Genetics . 33 (12): 1002-1006 .
12 16947981 2006 Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 .
13 11424923 2001 Finnila, S., Autere, J., Lehtovirta, M., Hartikainen, P., Mannermaa, A., Soininen, H., Majamaa, K. (2001) Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln Journal of Medical Genetics . 38 (6): 400-405 .
14 15786469 2005 Pyle, A., Foltynie, T., Tiangyou, W., Lambert, C., Keers, S. M., Allcock, L. M., Davison, J., Lewis, S. J., Perry, R. H., Barker, R., Burn, D. J., Chinnery, P. F. (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD Annals of Neurology . 57 (4): 564-567 .
15 16154228 2005 Howell, N., Elson, J. L., Chinnery, P. F., Turnbull, D. M. (2005) mtDNA mutations and common neurodegenerative disorders Trends in Genetics . 21 (11): 583-586 .
16 16773565 2006 Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 .
17 15975594 2005 Huerta, C., Castro, M. G., Coto, E., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Martinez, C., Lahoz, C. H., Alvarez, V. (2005) Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population Journal of the Neurological Sciences . 236 (40545): 49-54 .
18 19076426 2008 Khusnutdinova, E., Gilyazova, I., Ruiz-Pesini, E., Derbeneva, O., Khusainova, R., Khidiyatova, I., Magzhanov, R., Wallace, D. C. (2008) A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease Annals of the New York Academy of Sciences . 1147 (-): 1-20 .
19 30369864 2018 Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 .
20 31965079 2020 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
21 10953187 2000 Tan, E. K., Khajavi, M., Thornby, J. I., Nagamitsu, S., Jankovic, J., Ashizawa, T. (2000) Variability and validity of polymorphism association studies in Parkinson's disease Neurology . 55 (4): 533-538 .
22 8723226 1996 Kosel, S., Lucking, C. B., Egensperger, R., Mehraein, P., Graeber, M. B. (1996) Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body parkinsonism Journal of Neuroscience Research . 44 (2): 174-183 .
23 15292920 2005 Jacobs, H. T., Hutchin, T. P., Kappi, T., Gillies, G., Minkkinen, K., Walker, J., Thompson, K., Rovio, A. T., Carella, M., Melchionda, S., Zelante, L., Gasparini, P., Pyykko, I., Shah, Z. H., Zeviani, M., Mueller, R. F. (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment European Journal of Human Genetics . 13 (1): 26-33 .
24 19703591 2010 Tanaka, N., Goto, Y. I., Akanuma, J., Kato, M., Kinoshita, T., Yamashita, F., Tanaka, M., Asada, T. (2010) Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's disease Mitochondrion . 10 (1): 32-37 .
25 10424809 1999 Chinnery, P. F., Howell, N., Andrews, R. M., Turnbull, D. M. (1999) Mitochondrial DNA analysis: polymorphisms and pathogenicity Journal of Medical Genetics . 36 (7): 505-510 .
26 17174475 2007 Huerta, C., Sanchez-Ferrero, E., Coto, E., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Alvarez, V. (2007) No association between Parkinson's disease and three polymorphisms in the eNOS, nNOS, and iNOS genes Neuroscience Letters . 413 (3): 202-205 .
27 29340697 2018 Valiente-Palleja, A., Torrell, H., Muntane, G., Cortes, M. J., Martinez-Leal, R., Abasolo, N., Alonso, Y., Vilella, E., Martorell, L. (2018) Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability Human Molecular Genetics . 27 (5): 891-900 .
28 32337946 2019 Garcia, S., Lopez-Hernandez, L., Davila-Maldonado, L., Cuevas-Garcia, C., Gallegos-Arreola, M., Alcaraz-Estrada, S., Cortes-Espinosa, L., Flores, C., Canto, P., Vazquez, R. (2019) Association of mitochondrial variants A4336G of the tRNAGln gene and 8701G/A of the MT-ATP6 gene in Mexicans Mestizos with Parkinson disease Folia Neuropathologica . 57 (4): 335-339 .