The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination
Abstract
We have investigated the pathogenetic mechanism of the mitochondrial tRNA(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DNA (mtDNA)-less cell transformants carrying the mutation and in control cells. A decrease of 50-60% in the specific tRNA(Lys) aminoacylation capacity per cell was found in mutant cells. Furthermore, several lines of evidence reveal that the severe protein synthesis impairment in MERRF mutation-carrying cells is due to premature termination of translation at each or near each lysine codon, with the deficiency of aminoacylated tRNA(Lys) being the most likely cause of this phenomenon.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Finally, decreased mt-tRNA stability has been described with the m.8344A N G mutation both in vitro and in cybrid osteosarcoma cells [198,202].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [202]
Citations
Cites
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
Feinberg, A. P., & Vogelstein, B. (1983) · Analytical Biochemistry · doi:10.1016/0003-2697(83)90418-9 · Cited by 24,512
Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,740
Cleveland, D. W., Fischer, S. G., Kirschner, M. W., & Laemmli, U. K. (1977) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)75212-0 · Cited by 5,556
tRNA punctuation model of RNA processing in human mitochondria
Ojala, D., Montoya, J., & Attardi, G. M. (1981) · Nature · doi:10.1038/290470a0 · Cited by 2,561
Human Cells Lacking mtDNA: Repopulation with Exogenous Mitochondria by Complementation
King, M. P., & Attardi, G. M. (1989) · Science · doi:10.1126/science.2814477 · Cited by 1,685
Shoffner, J. M., Lott, M. T., Lezza, A. M. S., Seibel, P., Ballinger, S. W., & Wallace, D. C. (1990) · Cell · doi:10.1016/0092-8674(90)90059-n · Cited by 1,476
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
(1990) · Trends in Genetics · doi:10.1016/0168-9525(90)90040-d · Cited by 1,386
Diseases of the mitochondrial DNA
Wallace, D. C. (1992) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.61.070192.005523 · Cited by 1,319
Hayashi, J., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y., & Nonaka, I. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.23.10614 · Cited by 553
Wallace, D. C., Zheng, X., Lott, M. T., Shoffner, J. M., Hodge, J. A., Kelley, R. I., Epstein, C. M., & Hopkins, L. C. (1988) · Cell · doi:10.1016/0092-8674(88)90218-8 · Cited by 537
Cited by
Sorted by citations
Items 101–200 of 285
Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations
Moreno‐Loshuertos, R., Ferrín, G., Acín‐Pérez, R., Gallardo, M. E., Viscomi, C. F., Martos, A. P., Zeviani, M., Fernández‐Silva, P., & Enrı́quez, J. A. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001379 · Cited by 60
Mitochondrial diseases in adults
Morgia, C. L., Maresca, A., Caporali, L., Valentino, M. L., & Carelli, V. (2020) · Journal of Internal Medicine · doi:10.1111/joim.13064 · Cited by 61
Disease‐related versus polymorphic mutations in human mitochondrial tRNAs
Florentz, C., & Sissler, M. (2001) · EMBO Reports · doi:10.1093/embo-reports/kve111 · Cited by 58
A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function
Jiang, P., Wang, M., Xue, L., Xiao, Y., Yu, J., Wang, H., Yao, J., Liu, H., Peng, Y., Liu, H., et al. (2016) · Molecular and Cellular Biology · doi:10.1128/mcb.00199-16 · Cited by 60
The molecular pathology of pathogenic mitochondrial tRNA variants
Richter, U., McFarland, R., Taylor, R. W., & Pickett, S. J. (2021) · FEBS Letters · doi:10.1002/1873-3468.14049 · Cited by 58
Functional defects of pathogenic human mitochondrial tRNAs related to structural fragility.
Kelley, S. O., SCHIMMEL, P. R., & Steinberg, S. V. (2000) · Nature Structural Biology · doi:10.1038/79612 · Cited by 58
Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNASer(UCN) mutation
Schuelke, M., Bakker, M., Stoltenburg, G., Sperner, J., & von Moers, A. (1998) · Annals of Neurology · doi:10.1002/ana.410440420 · Cited by 57
Aminoacylation properties of pathology-related human mitochondrial tRNALysvariants
Sissler, M., Helm, M., Frugier, M., Giegé, R., & Florentz, C. (2004) · RNA · doi:10.1261/rna.5267604 · Cited by 56
Mechanisms of tRNA import into yeast mitochondria: An overview
Tarassov, I., & Martin, R. P. (1996) · Biochimie · doi:10.1016/0300-9084(96)84756-0 · Cited by 56
Comparative proteomics as a new tool for exploring human mitochondrial tRNA disorders
Rabilloud, T., Strub, J.-M., Carte, N., Luche, S., Van Dorsselaer, A., Lunardi, J., Giegé, R., & Florentz, C. (2002) · Biochemistry · doi:10.1021/bi0114776 · Cited by 55
Sieber, F., Duchêne, A., & Maréchal‐Drouard, L. (2011) · International review of cytology · doi:10.1016/b978-0-12-386043-9.00004-9 · Cited by 54
Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10
de la Mata, M., Garrido‐Maraver, J., Cotán, D., Cordero, M. D., Oropesa-Ávila, M., Izquierdo, L. G., de Miguel, M., Lorite, J. B., Rivas, E., Ybot‐González, P., et al. (2012) · Neurotherapeutics · doi:10.1007/s13311-012-0103-3 · Cited by 56
Hijacking tRNAs From Translation: Regulatory Functions of tRNAs in Mammalian Cell Physiology
Avcilar-Kücükgöze, I., & Kashina, A. S. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2020.610617 · Cited by 56
Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells
Sasarman, F., & Shoubridge, E. A. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-504-6_14 · Cited by 53
Toompuu, M., Yasukawa, T., Suzuki, T., Hakkinen, T., Spelbrink, J. N., Watanabe, K., & Jacobs, H. T. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m200338200 · Cited by 52
Meng, F., Cang, X., Peng, Y., Li, R., Zhang, Z., Li, F., Fan, Q., Guan, A. S., Fischel-Ghosian, N., Zhao, X., et al. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.749374 · Cited by 51
Toompuu, M., Tiranti, V., Zeviani, M., & Jacobs, H. T. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.12.2275 · Cited by 51
Zhou, L., Chomyn, A., Attardi, G. M., & Miller, C. A. (1997) · Journal of Neuroscience · doi:10.1523/jneurosci.17-20-07746.1997 · Cited by 49
In Vivo and In Organello Analyses of Mitochondrial Translation
Fernández‐Silva, P., Acín‐Pérez, R., Fernández‐Vizarra, E., Martos, A. P., & Enrı́quez, J. A. (2007) · Methods in cell biology · doi:10.1016/s0091-679x(06)80028-2 · Cited by 48
Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martín, M. A., Rubio‐Terres, C., Santorelli, F. M., Zeviani, M., DiMauro, S., & Garesse, R. (1999) · Neurology · doi:10.1212/wnl.52.2.377 · Cited by 48
A pathogenic point mutation reduces stability of mitochondrial mutant tRNAIle
Yasukawa, T. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.19.3779 · Cited by 48
Antonická, H., Floryk, D., KLEMENT, P., Stratilová, L., Heřmanská, J., HOUŠKOVÁ, H., Kalous, M., Drahota, Z., Zeman, J., & Houštěk, J. (1999) · Biochemical Journal · doi:10.1042/bj3420537 · Cited by 48
Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA Phe gene
Zsurka, G., Hampel, K. G., Nelson, I. P., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoué, S., Lombès, A., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181cef7ab · Cited by 47
Chen, C., Chen, Y., & Guan, M. (2015) · Protein & Cell · doi:10.1007/s13238-015-0175-z · Cited by 48
Mitochondrial Encephalomyopathies
Oldfors, A., & Tulinius, M. (2003) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/62.3.217 · Cited by 46
Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype
MORGAN-HUGHES, J. A., & Hanna, M. G. (1999) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00162-5 · Cited by 46
Paredes, J. A., Carreto, L. C., Simões, J., Bezerra, A. R., Gomes, A. C., Santamaría, R., Kapushesky, M., Moura, G., & Santos, M. A. S. (2012) · BMC Biology · doi:10.1186/1741-7007-10-55 · Cited by 44
Meng, F., Zhou, M., Xiao, Y., Mao, X., Zheng, J., Lin, J., Lin, T., Ye, Z., Cang, X., Fu, Y., et al. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa1225 · Cited by 44
Jia, Z., Meng, F., Chen, H., Zhu, G., Li, X., He, Y., Zhang, L., He, X., Zhan, H., Chen, M., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac698 · Cited by 44
Mitochondrial tRNA mutations in 2070 Chinese Han subjects with hypertension
Xue, L., Wang, M., Li, H., Wang, H., Jiang, F., Hou, L., Geng, J., Lin, Z., Peng, Y., Zhou, H., et al. (2016) · Mitochondrion · doi:10.1016/j.mito.2016.08.008 · Cited by 44
Meng, F., He, Z., Tang, X., Zheng, J., Jin, X., Zhu, Y., Ren, X., Zhou, M., Wang, M., Gong, S., et al. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra117.000530 · Cited by 43
Mitochondrial tRNA mutations associated with deafness
Jing, Z., Ji, Y., & Guan, M. (2012) · Journal of Otology · doi:10.1016/s1672-2930(12)50009-7 · Cited by 43
Wang, M., Peng, Y., Zheng, J., Zheng, B., Jin, X., Liu, H., Wang, Y., Tang, X., Huang, T., Jiang, P., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw726 · Cited by 42
Parkin-mediated mitophagy and autophagy flux disruption in cellular models of MERRF syndrome
Paz, M. V., Povea-Cabello, S., Villalón-García, I., Álvarez-Córdoba, M., Suarez-Rivero, J. M., Talaverón-Rey, M., Jackson, S., Falcón‐Moya, R., Moreno, A. R., & Sánchez-Alcázar, J. A. (2020) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2020.165726 · Cited by 42
Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases
Hanna, M. G., & Nelson, I. P. (1999) · Cellular and Molecular Life Sciences · doi:10.1007/s000180050327 · Cited by 42
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes
Anitori, R. P., Manning, K., Quan, F., Weleber, R. G., Buist, N. R. M., Shoubridge, E. A., & Kennaway, N. G. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.10.003 · Cited by 41
Emerging therapeutic approaches to mitochondrial diseases
Wenz, T., Williams, S. L., Bacman, S. R., & Moraes, C. T. (2010) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.109 · Cited by 42
Kleinle, S., Schneider, V., Moosmann, P., Brandner, S., Krähenbühl, S., & Liechti‐Gallati, S. (1998) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1998.8729 · Cited by 40
Hatakeyama, H., Katayama, A., Komaki, H., Nishino, I., & Goto, Y. (2015) · Acta Neuropathologica Communications · doi:10.1186/s40478-015-0227-x · Cited by 39
Jacobs, H. T. (1997) · Annals of Medicine · doi:10.3109/07853899709007472 · Cited by 38
Mahata, B., Bhattacharyya, S. N., Mukherjee, S., & Adhya, S. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.c400572200 · Cited by 37
Role of mitochondrial DNA in human aging
Attardi, G. M. (2002) · Mitochondrion · doi:10.1016/s1567-7249(02)00032-6 · Cited by 36
Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation
Meziane, A. E. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.13.2141 · Cited by 36
Suomalainen, A. (1997) · Annals of Medicine · doi:10.3109/07853899708999341 · Cited by 38
Clinical syndromes associated with mtDNA mutations: where we stand after 30 years
Carelli, V., & Morgia, C. L. (2018) · Essays in Biochemistry · doi:10.1042/ebc20170097 · Cited by 34
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy
Bruno, C., Kirby, D. M., Koga, Y., Garavaglia, B., Duran, G. P., Santorelli, F. M., Shield, L. K., Xia, W., Shanske, S., Goldstein, J. D., et al. (1999) · The Journal of Pediatrics · doi:10.1016/s0022-3476(99)70022-3 · Cited by 34
Jones, C. N., Jones, C. I., Graham, W. D., Agris, P. F., & Spremulli, L. L. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m806992200 · Cited by 34
Human mitochondrial tRNA quality control in health and disease
Belostotsky, R., Frishberg, Y., & Entelis, N. (2012) · RNA Biology · doi:10.4161/rna.9.1.18009 · Cited by 34
Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders
Florentz, C. (2002) · Bioscience Reports · doi:10.1023/a:1016065107165 · Cited by 32
Zhou, M., Wang, M., Xue, L., Lin, Z., He, Q., Shi, W., Chen, Y., Jin, X., Li, H., Jiang, P., et al. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.787028 · Cited by 31
Liu, H., Li, R., Li, W., Wang, M., Ji, J., Zheng, J., Mao, Z., Mo, J. Q., Jiang, P., Lü, J., et al. (2015) · Mitochondrion · doi:10.1016/j.mito.2015.01.004 · Cited by 31
Tryoen-Tóth, P., Richert, S., Sohm, B., Mine, M., Marsac, C., Van Dorsselaer, A., Leize, E., & Florentz, C. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m301530200 · Cited by 31
Hatakeyama, H., & Goto, Y. (2016) · Stem Cells · doi:10.1002/stem.2292 · Cited by 31
Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss
Zheng, J., Bai, X., Xiao, Y., Ji, Y., Meng, F., Aishanjiang, M., Gao, Y., Wang, H., Fu, Y., & Guan, M. (2020) · Mitochondrion · doi:10.1016/j.mito.2020.03.005 · Cited by 31
Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases
Davyt, M., Bharti, N., & Ignatova, Z. (2023) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2023.105089 · Cited by 31
Mitochondrial Diseases ‐ An Expanding Spectrum of Disorders and Affected Genes
von Kleist-Retzow, J., Schauseil-Zipf, U., Michalk, D. V., & Kunz, W. S. (2003) · Experimental Physiology · doi:10.1113/eph8802509 · Cited by 28
Maniura‐Weber, K., Helm, M., Engemann, K., Eckertz, S., Möllers, M., Schauen, M., Hayrapetyan, A., von Kleist-Retzow, J., Lightowlers, R. N., Bindoff, L. A., et al. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl727 · Cited by 30
Mitochondria from ejaculated human spermatozoa do not synthesize proteins
Díez‐Sánchez, C., Ruiz‐Pesini, E., Montoya, J., Martos, A. P., Enrı́quez, J. A., & López-Pérez, M. J. (2003) · FEBS Letters · doi:10.1016/s0014-5793(03)01013-5 · Cited by 30
Martínez-Zamora, A., Meseguer, S., Esteve, J. M., Villarroya, M., Aguado, C., Enrı́quez, J. A., Knecht, E., & Armengod, M. ‐. (2015) · PLoS ONE · doi:10.1371/journal.pone.0144273 · Cited by 31
Paz, M. V., Povea-Cabello, S., Villalón-García, I., Suarez-Rivero, J. M., Álvarez-Córdoba, M., de la Mata, M., Talaverón-Rey, M., Jackson, S., & Sánchez-Alcázar, J. A. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2019.02.010 · Cited by 31
Mitochondrial DNA mutations and oxidative stress in mitochondrial diseases
Wei, Y., & Lee, H. (2003) · Advances in clinical chemistry · doi:10.1016/s0065-2423(03)37007-6 · Cited by 31
Zhao, X., Cui, L., Xiao, Y., Mao, Q., Aishanjiang, M., Kong, W., Liu, Y., Chen, H., Hong, F., Jia, Z., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz742 · Cited by 29
Janssen, G. M. C., Hensbergen, P. J., Bussel, F. J. V., Balog, C. I. A., Maassen, J. A., Deelder, A. M., & Raap, A. K. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm203 · Cited by 29
Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants
Pye, D. A. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl516 · Cited by 28
Bornstein, B., Más, J. A. G., Patrono, C., Fernández‐Moreno, M. Á., González‐Vioque, E., Campos, Y., Carrozzo, R., Martín, M. A., del Hoyo, P., Santorelli, F. M., et al. (2005) · Biochemical Journal · doi:10.1042/bj20040949 · Cited by 28
Evidence for aminoacylation-induced conformational changes in human mitochondrial tRNAs.
Enrı́quez, J. A., & Attardi, G. M. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.16.8300 · Cited by 28
ILAE Genetics Literacy series: Progressive myoclonus epilepsies
Cameron, J. M., Ellis, C. A., Berkovic, S. F., for the ILAE Genetics Commission, & the ILAE Genetic Literacy Task Force (2023) · Epileptic Disorders · doi:10.1002/epd2.20152 · Cited by 27
Tissue-specific expression atlas of murine mitochondrial tRNAs
He, Q., He, X., Xiao, Y., Zhao, Q., Ye, Z., Cui, L., Chen, Y., & Guan, M. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100960 · Cited by 25
Sasarman, F. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.14.1669 · Cited by 26
Entelis, N., Kolesnikova, O., Kazakova, H., Brandina, I., Kamenski, P. A., Martin, R. P., & Tarassov, I. (2002) · Springer eBooks · doi:10.1007/978-1-4615-0721-5_9 · Cited by 26
The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphoma
Lombès, A., Bories, D., Girodon, E., Fraction, P., Ngo, M. M., Breton-Gorius, J., Tulliez, M., & Goossens, M. (1998) · Human Mutation · doi:10.1002/humu.1380110158 · Cited by 26
Meng, F., Jia, Z., Zheng, J., Ji, Y., Wang, J., Xiao, Y., Fu, Y., Wang, M., Ling, F., & Guan, M. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac720 · Cited by 26
Chen, C., Chen, H.-F., Gi, S.-J., Chi, T., Cheng, C.-K., Hsu, C.-F., Ma, Y., Wei, Y., Liu, C.-S., & Hsieh, M. (2011) · Mitochondrion · doi:10.1016/j.mito.2011.05.014 · Cited by 25
Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects
Craigen, W. J. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-504-6_1 · Cited by 26
Fan, W., Zheng, J., Kong, W., Cui, L., Aishanjiang, M., Yi, Q., Wang, M., Cang, X., Tang, X., Chen, Y., et al. (2019) · Journal of Biological Chemistry · doi:10.1074/jbc.ra119.010598 · Cited by 25
Shah, Z. H., Migliosi, V., Miller, S. C. M., Wang, A., Friedman, T. B., & Jacobs, H. T. (1998) · Genomics · doi:10.1006/geno.1997.5166 · Cited by 25
Qiu, Q.-M., Li, R., Jiang, P., Xue, L., Yang, L., Song, Y., Han, J., Lu, Z., Zhi, S., Mo, J. Q., et al. (2012) · Human Mutation · doi:10.1002/humu.22109 · Cited by 24
Konovalova, S. A., Hilander, T., Loayza‐Puch, F., Rooijers, K., Agami, R., & Tyynismaa, H. (2015) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2015.06.018 · Cited by 22
Zhu, H., Wang, S., Liu, L., Lǐ, Y., Chen, R., Wang, L., & Holliman, C. J. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.151 · Cited by 24
Rohou, H., Francisci, S., Rinaldi, T., Frontali, L., & Bolotin‐Fukuhara, M. (2001) · Yeast · doi:10.1002/1097-0061(200102)18:3 · Cited by 24
Mitochondrial diseases and aging
Papa, S., Scacco, S., Schliebs, M., Trappe, J., & Seibel, P. (1996) · Molecular Aspects of Medicine · doi:10.1016/s0098-2997(96)00013-1 · Cited by 24
Li, X., Zhang, L., Fischel‐Ghodsian, N., & Guan, M. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.01.006 · Cited by 22
Yan, Q., & Guan, M. (2003) · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · doi:10.1016/j.bbaexp.2003.11.010 · Cited by 21
Bacman, S. R., Atencio, D. P., & Moraes, C. T. (2003) · Biochemical Journal · doi:10.1042/bj20030222 · Cited by 21
Xu, C., Tong, L., Rao, J., Ye, Q., Chen, Y., Zhang, Y., Xu, J., Mao, X., Meng, F., Shen, H., et al. (2022) · JCI Insight · doi:10.1172/jci.insight.157418 · Cited by 20
Korzeniewski, B., Malgat, M., Letellier, T., & Mazat, J. (2001) · Biochemical Journal · doi:10.1042/0264-6021:3570835 · Cited by 20
Shamnamole, K., Jalali, S., Scaria, V., & Bhardwaj, A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0060066 · Cited by 19
Cortopassi, G. A. (2002) · Free Radical Biology and Medicine · doi:10.1016/s0891-5849(02)00966-8 · Cited by 19
Muscle fiber type-specific myofibrillar actomyosin Ca2+ ATPase activity in multiple sclerosis
Castro, M. J., Kent‐Braun, J. A., Ng, A., Miller, R. G., & Dudley, G. A. (1998) · Muscle & Nerve · doi:10.1002/(sici)1097-4598(199804)21:4 · Cited by 21
Emerging treatments for progressive myoclonus epilepsies
Riva, A., Guglielmo, A., Balagura, G., Marchese, F., Amadori, E., Iacomino, M., Minassian, B. A., Zara, F., & Striano, P. (2020) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2020.1741350 · Cited by 18
Xiao, Y., Wang, M., He, Q., Xu, L., Zhang, Q., Meng, F., Jia, Z., Zhang, F., Wang, H., & Guan, M. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa860 · Cited by 17
Point mutations in the mitochondrial tRNA(Lys) gene: implications for pathogenesis and mechanism.
Masucci, J. P., Schon, E. A., & King, M. P. (1997) · PubMed · Cited by 18
Matam, K., Shaik, N. A., Aggarwal, S., Diwale, S., Banaganapalli, B., Al-Aama, J. Y., Elango, R., Rao, P., & Hasan, Q. A. (2014) · Molecular Genetics and Genomics · doi:10.1007/s00438-014-0828-2 · Cited by 18
Etemad, S., Houshmand, M., Panahi, M. S. S., Kasraie, S., Moin, M., & Bahar, M. A. (2007) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-007-9160-2 · Cited by 18
Canter, J. A., Eshaghian, A., Fessel, J. P., Summar, M. L., Roberts, J. L., Morrow, J. D., Sligh, J. E., & Haines, J. L. (2004) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2004.11.031 · Cited by 18
Arredondo, J. J., Gallardo, M. E., García‐Pavía, P., Domingo, V., Bretón, B., García‐Silva, M. T., Sedano, M. J., Martín, M. A., Arenas, J., Cervera, M., et al. (2011) · Mitochondrion · doi:10.1016/j.mito.2011.09.010 · Cited by 17
The Role of Mitochondrial Genes in Neurodegenerative Disorders
Kumar, R., Harilal, S., Parambi, D. G. T., Kanthlal, S. K., Rahman, M. A., Alexiou, A. T., Batiha, G. E., & Mathew, B. (2021) · Current Neuropharmacology · doi:10.2174/1570159x19666210908163839 · Cited by 16
Point mutations in the mitochondrial tRNALys gene: Implications for pathogenesis and mechanism
Masucci, J. P., Schon, E. A., & King, M. P. (1997) · Molecular and Cellular Biochemistry · doi:10.1023/a:1006808524536 · Cited by 17
The Pathophysiology of Mitochondrial Biogenesis: Towards Four Decades of Mitochondrial DNA Research
Fernández‐Moreno, M. Á., Bornstein, B., Petit, N., & Garesse, R. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.3083 · Cited by 17
Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations
Yasukawa, T., Suzuki, T., Ohta, S., & Watanabe, K. (2002) · Mitochondrion · doi:10.1016/s1567-7249(02)00033-8 · Cited by 16
Metadata
- Authors
- Enriquez, J. A., Chomyn, A., & Attardi, G.
- Affiliations
- California Institute of Technology (US)
- ORCID
- Attardi, Giuseppe
- Venue
- Nature Genetics
- Published
- 1995-05
- Volume
- 10
- Issue
- 1
- Pages
- 47-55
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2043779724
- Cited by
- 285
- References
- 36
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 5 · 2023: 4 · 2022: 6 · 2021: 6 · 2020: 8 · 2019: 6 · 2018: 11 · 2017: 5 · 2016: 8 · 2015: 13 · 2014: 7 · 2013: 6 · 2012: 12
- FWCI
- 5.95
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- CaltechAUTHORS (California Institute of Technology) (submittedVersion)
- Funders
- National Institute of General Medical Sciences (GM11726)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA modifications and cancer
- Keywords
- MERRF syndrome, mitochondrial DNA mutations, tRNALys, aminoacylation, mitochondrial encephalomyopathy, pathogenesis
- MeSH terms
- Cell Line, DNA, Mitochondrial, Humans, Lysine, Methionine, Mitochondria, Mutation, NADH Dehydrogenase, Oxygen Consumption, Peptide Chain Termination, Translational, Ribosomes, RNA, Transfer, Amino Acyl, RNA, Transfer, Lys, Transformation, Genetic, Protein Biosynthesis, MERRF Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review