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.
Integrity signals
Registry
Cites
Statistics
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?
m.8344A N G decreases mt-tRNA stability in vitro and in cybrid osteosarcoma cells.
“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]
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 · see citing works
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 9,640 · see citing works
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 · see citing works
tRNA punctuation model of RNA processing in human mitochondria
Ojala, D., Montoya, J., & Attardi, G. M. (1981) · Nature · doi:10.1038/290470a0 · Cited by 2,536 · see citing works
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 1,659 · see citing works
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 1,468 · see citing works
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 · see citing works
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 · see citing works
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 552 · see citing works
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 · see citing works
Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D. R., Lai, S. T., Nonaka, I., Angelini, C. I., & Attardi, G. M. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.10.4221 · Cited by 491 · see citing works
An operational RNA code for amino acids and possible relationship to genetic code.
SCHIMMEL, P. R., Giegé, R., Moras, D., & Yokoyama, S. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.19.8763 · Cited by 418 · see citing works
Varshney, U., Lee, C. P., & RajBhandary, U. L. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)54288-5 · Cited by 404 · see citing works
Animal Mitochondrial DNA: An Extreme Example of Genetic Economy
Attardi, G. M. (1985) · International review of cytology · doi:10.1016/s0074-7696(08)61373-x · Cited by 351 · see citing works
Boulet, L., Karpati, G., & Shoubridge, E. A. (1992) · Europe PMC (PubMed Central) · Cited by 331 · see citing works
TRANSLATIONAL ACCURACY AND THE FITNESS OF BACTERIA
Kurland, C. G. (1992) · Annual Review of Genetics · doi:10.1146/annurev.ge.26.120192.000333 · Cited by 304 · see citing works
Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G., & Attardi, G. M. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.4.2236 · Cited by 301 · see citing works
Normanly, J., & Abelson, J. N. (1989) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.58.070189.005121 · Cited by 242 · see citing works
tRNA Structure and Aminoacylation Efficiency
Giegé, R., Puglisi, J. D., & Florentz, C. (1993) · Progress in nucleic acid research and molecular biology · doi:10.1016/s0079-6603(08)60869-7 · Cited by 226 · see citing works
Achievements and perspectives of mitochondrial research
Cleeter, M., Ragan, C., Early, F., & Patel, S. K. (1985) · UCL Discovery (University College London) · Cited by 208 · see citing works
Yoneda, M., Miyatake, T., & Attardi, G. M. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.4.2699 · Cited by 193 · see citing works
Nierhaus, K. H., Franceschi, F. J., Subramanian, A. R., Erdmann, V. A., & Wittmann‐Liebold, B. (1993) · Springer eBooks · doi:10.1007/978-1-4615-2407-6 · Cited by 191 · see citing works
The Transfer RNA Identity Problem: a Search for Rules
Saks, M. E., Sampson, J. R., & Abelson, J. N. (1994) · Science · doi:10.1126/science.7506844 · Cited by 174 · see citing works
Expression of the mitochondrial genome in HeLa cells
Attardi, B., & Attardi, G. M. (1971) · Journal of Molecular Biology · doi:10.1016/0022-2836(71)90194-x · Cited by 152 · see citing works
Membrane-bound ribosomes in HeLa cells
Attardi, B., Cravioto, B., & Attardi, G. M. (1969) · Journal of Molecular Biology · doi:10.1016/0022-2836(69)90404-5 · Cited by 147 · see citing works
Accuracy in Molecular Processes
(1986) · Springer eBooks · doi:10.1007/978-94-009-4097-0 · Cited by 124 · see citing works
Partial sequence analysis of ribosomal RNA from HeLa cells
Amaldi, F., & Attardi, G. M. (1968) · Journal of Molecular Biology · doi:10.1016/0022-2836(68)90317-3 · Cited by 121 · see citing works
Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells
King, M. P., & Attardi, G. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)82194-9 · Cited by 104 · see citing works
Gaines, G., & Attardi, G. M. (1984) · Molecular and Cellular Biology · doi:10.1128/mcb.4.8.1605 · Cited by 76 · see citing works
‘Lipidic particles’ are intermembrane attachment sites
Hui, S. W., & Stewart, T. P. (1981) · Nature · doi:10.1038/290427a0 · Cited by 73 · see citing works
Expression of the mitochondrial genome in HeLa cells
Ojala, D., & Attardi, G. M. (1972) · Journal of Molecular Biology · doi:10.1016/0022-2836(72)90282-3 · Cited by 63 · see citing works
Mitochondrial Ribosomes in HeLa Cells
Attardi, G. M., & Ojala, D. (1971) · Nature New Biology · doi:10.1038/newbio229133a0 · Cited by 62 · see citing works
Amino acid specificity of the transfer RNA species coded for by HeLa cell mitochondrial DNA
Lynch, D. C., & Attardi, G. M. (1976) · Journal of Molecular Biology · doi:10.1016/0022-2836(76)90077-2 · Cited by 58 · see citing works
Mariottini, P., Chomyn, A., Riley, M., Cottrell, B. A., Doolittle, R. F., & Attardi, G. M. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.6.1563 · Cited by 39 · see citing works
Recurrent Seyfert activity in spiral galaxy nuclei
Sanders, R. H. (1981) · Nature · doi:10.1038/294427a0 · Cited by 26 · see citing works
The secret life of the ribosome
Kurland, C. G., & Gallant, J. (1986) · Springer eBooks · doi:10.1007/978-94-009-4097-0_6 · Cited by 22 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
The mitochondrial genome: structure, transcription, translation and replication
Taanman, J.-W. (1999) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00161-3 · Cited by 1,635 · see citing works
Mitochondrial threshold effects
Rossignol, R., Faustin, B., Rocher, C., Malgat, M., Mazat, J., & Letellier, T. (2003) · Biochemical Journal · doi:10.1042/bj20021594 · Cited by 802 · see citing works
Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676 · see citing works
“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].”
BackgroundHuman Mitochondrial tRNAs: Biogenesis, Function, Structural Aspects, and Diseases
Suzuki, T., Nagao, A., & Suzuki, T. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132531 · Cited by 554 · see citing works
Mitochondrial diseases: the contribution of organelle stress responses to pathology
Suomalainen, A., & Battersby, B. J. (2018) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.66 · Cited by 505 · see citing works
Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility
Ruiz‐Pesini, E., Lapeña, A. C., Díez‐Sánchez, C., Martos, A. P., Montoya, J., Alvarez, E., Díaz, M. Á., Urriés, A., Montoro, L., López-Pérez, M. J., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/303040 · Cited by 504 · see citing works
Mitochondrial DNA Mutations and Pathogenesis
Schon, E. A., Bonilla, E., & DiMauro, S. (1997) · Journal of Bioenergetics and Biomembranes · doi:10.1023/a:1022685929755 · Cited by 421 · see citing works
Chinnery, P. F. (1997) · Brain · doi:10.1093/brain/120.10.1713 · Cited by 382 · see citing works
Moreno‐Loshuertos, R., Acín‐Pérez, R., Fernández‐Silva, P., Movilla, N., Martos, A. P., de Córdoba, S. R., Gallardo, M. E., & Enrı́quez, J. A. (2006) · Nature Genetics · doi:10.1038/ng1897 · Cited by 325 · see citing works
Kirino, Y., Yasukawa, T., Ohta, S., Akira, S., Ishihara, K., Watanabe, K., & Suzuki, T. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0405173101 · Cited by 288 · see citing works
Yasukawa, T., Suzuki, T., Suzuki, T., Ueda, T., Ohta, S., & Watanabe, K. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.6.4251 · Cited by 268 · see citing works
Translation matters: protein synthesis defects in inherited disease
Scheper, G. C., van der Knaap, M. S., & Proud, C. G. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2142 · Cited by 265 · see citing works
Human mitochondrial tRNAs in health and disease
Florentz, C., Sohm, B., Tóth, P., P�tz, J., & Sissler, M. (2003) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-003-2343-1 · Cited by 249 · see citing works
Mitochondrial dysfunction and seizures: the neuronal energy crisis
Zsurka, G., & Kunz, W. S. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00148-9 · Cited by 246 · see citing works
Wobble modification defect in tRNA disturbs codon–anticodon interaction in a mitochondrial disease
Yasukawa, T., Suzuki, T., Ishii, N., Ohta, S., & Watanabe, K. (2001) · The EMBO Journal · doi:10.1093/emboj/20.17.4794 · Cited by 240 · see citing works
Guan, M. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.7.963 · Cited by 236 · see citing works
Helm, M., Brulé, H., Degoul, F., Cepanec, C., Leroux, J. P., Giegé, R., & Florentz, C. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.7.1636 · Cited by 230 · see citing works
Mitochondrial defects in cardiomyopathy and neuromuscular disease
Wallace, D. C. (2000) · American Heart Journal · doi:10.1067/mhj.2000.103934 · Cited by 206 · see citing works
[18] In vivo labeling and analysis of human mitochondrial translation products
Chomyn, A. (1996) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(96)64020-8 · Cited by 207 · see citing works
Smits, P., Smeitink, J., & van den Heuvel, L. (2010) · Journal of Biomedicine and Biotechnology · doi:10.1155/2010/737385 · Cited by 202 · see citing works
Mechanism of Protein Biosynthesis in Mammalian Mitochondria
Christian, B. E., & Spremulli, L. (2011) · Biochimica et Biophysica Acta · doi:10.1016/j.bbagrm.2011.11.009 · Cited by 216 · see citing works
Hashimoto, M., Bacman, S. R., Peralta, S., Falk, M. J., Chomyn, A., Chan, D. C., Williams, S. L., & Moraes, C. T. (2015) · Molecular Therapy · doi:10.1038/mt.2015.126 · Cited by 199 · see citing works
Villani, G., & Attardi, G. M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.4.1166 · Cited by 199 · see citing works
Chomyn, A., Enriquez, J. A., Micol, V., Fernandez-Silva, P., & Attardi, G. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m908734199 · Cited by 197 · see citing works
Self-citationMitochondrial Disease—Its Impact, Etiology, and Pathology
McFarland, R., Taylor, R. W., & Turnbull, D. M. (2007) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(06)77005-3 · Cited by 192 · see citing works
Guan, M., Enrı́quez, J. A., Fischel‐Ghodsian, N., Puranam, R. S., Lin, C. P., Maw, M. A., & Attardi, G. M. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.10.5868 · Cited by 187 · see citing works
Wu, S., & Wei, Y. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2011.09.014 · Cited by 182 · see citing works
How Mitochondrial Damage Affects Cell Function
James, A. M., & Murphy, M. P. (2002) · Journal of Biomedical Science · doi:10.1159/000064721 · Cited by 182 · see citing works
Mitochondrial tRNA mutations and disease
Yarham, J. W., Elson, J. L., Blakely, E. L., McFarland, R., & Taylor, R. W. (2010) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.27 · Cited by 182 · see citing works
Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations
James, A. M., Wei, Y., Pang, C., & Murphy, M. P. (1996) · Biochemical Journal · doi:10.1042/bj3180401 · Cited by 167 · see citing works
Mitochondrial DNA mutations in neurodegeneration
Keogh, M. J., & Chinnery, P. F. (2015) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2015.05.015 · Cited by 163 · see citing works
Kolesnikova, O. A., Entelis, N. S., Jacquin-Becker, C., Goltzene, F., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., Martin, R. P., & Tarassov, I. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh267 · Cited by 157 · see citing works
Brini, M., Pinton, P., King, M. P., Davidson, M. M., Schon, E. A., & Rizzuto, R. (1999) · Nature Medicine · doi:10.1038/11396 · Cited by 156 · see citing works
Mitochondrial tRNA 3' end metabolism and human disease
Levinger, L. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh884 · Cited by 152 · see citing works
Cytoplasmic hybrid (cybrid) cell lines as a practical model for mitochondriopathies
Wilkins, H., Carl, S. M., & Swerdlow, R. H. (2014) · Redox Biology · doi:10.1016/j.redox.2014.03.006 · Cited by 152 · see citing works
Oxidative stress in inherited mitochondrial diseases
Hayashi, G., & Cortopassi, G. A. (2015) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2015.05.039 · Cited by 149 · see citing works
Sasarman, F., Antonická, H., & Shoubridge, E. A. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn265 · Cited by 148 · see citing works
Tolkunova, E. N., Park, H. J., Xia, J., King, M. P., & Davidson, E. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m006265200 · Cited by 141 · see citing works
Lactic acidemia and mitochondrial disease
ROBINSON, B. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.05.015 · Cited by 137 · see citing works
Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies
Swerdlow, R. H. (2007) · Journal of Neuroscience Research · doi:10.1002/jnr.21167 · Cited by 128 · see citing works
Nucleoside modifications in the regulation of gene expression: focus on tRNA
Duechler, M., Leszczyńska, G., Sochacka, E., & Nawrot, B. (2016) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-016-2217-y · Cited by 128 · see citing works
Richter, U., Lahtinen, T., Marttinen, P., Suomi, F., & Battersby, B. J. (2015) · The Journal of Cell Biology · doi:10.1083/jcb.201504062 · Cited by 126 · see citing works
Li, X. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh226 · Cited by 126 · see citing works
In vivo control of respiration by cytochrome c oxidase in human cells
Villani, G., & Attardi, G. M. (2000) · Free Radical Biology and Medicine · doi:10.1016/s0891-5849(00)00303-8 · Cited by 127 · see citing works
Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems
Carelli, V., & Chan, D. C. (2014) · Neuron · doi:10.1016/j.neuron.2014.11.022 · Cited by 127 · see citing works
Yasukawa, T., Suzuki, T., Ishii, N., Ueda, T., Ohta, S., & Watanabe, K. (2000) · FEBS Letters · doi:10.1016/s0014-5793(00)01145-5 · Cited by 124 · see citing works
Human Mitochondrial Diseases: Answering Questions and Questioning Answers
Howell, N. (1998) · International review of cytology · doi:10.1016/s0074-7696(08)61051-7 · Cited by 118 · see citing works
Gong, S., Peng, Y., Jiang, P., Wang, M., Fan, M., Wang, X., Zhou, H., Li, H., Yan, Q., Huang, T., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku466 · Cited by 117 · see citing works
A functionally dominant mitochondrial DNA mutation
Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn073 · Cited by 113 · see citing works
Tight Control of Respiration by NADH Dehydrogenase ND5 Subunit Gene Expression in Mouse Mitochondria
Bai, Y., Shakeley, R. M., & Attardi, G. M. (2000) · Molecular and Cellular Biology · doi:10.1128/mcb.20.3.805-815.2000 · Cited by 115 · see citing works
Clark, K. M., Taylor, R. W., Johnson, M. A., Chinnery, P. F., Chrzanowska‐Lightowlers, Z. M., Andrews, R. M., Nelson, I. P., Wood, N. W., Lamont, P. J., Hanna, M. G., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302361 · Cited by 112 · see citing works
Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs
Suzuki, T., Nagao, A., & Suzuki, T. (2011) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.65 · Cited by 112 · see citing works
Clinical mitochondrial genetics
Chinnery, P. F., Howell, N., Andrews, R. M., & Turnbull, D. M. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.6.425 · Cited by 110 · see citing works
Chinnery, P. F. (1998) · Brain · doi:10.1093/brain/121.10.1889 · Cited by 108 · see citing works
Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease
Wang, F., Zhang, D., Zhang, D., Li, P., & Gao, Y. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.675465 · Cited by 107 · see citing works
Complex I deficiency is Associated with 3243G:C Mitochondrial DNA in Osteosarcoma Cell Cybrids
Dunbar, D. R., Moonie, P., Zeviani, M., & Holt, I. J. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.1.123 · Cited by 107 · see citing works
Jiang, P., Jin, X., Peng, Y., Wang, M., Liu, H., Liu, X., Zhang, Z., Ji, Y., Zhang, J., Liang, M., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv498 · Cited by 106 · see citing works
Mitochondrial Disease: Mutations and Mechanisms
McKenzie, M., Liolitsa, D., & Hanna, M. G. (2004) · Neurochemical Research · doi:10.1023/b:nere.0000014829.42364.dd · Cited by 105 · see citing works
Impact of disease-related mitochondrial mutations on tRNA structure and function
Wittenhagen, L. M. (2003) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2003.09.006 · Cited by 102 · see citing works
McKenzie, M., Lazarou, M., Thorburn, D. R., & Ryan, M. T. (2007) · Analytical Biochemistry · doi:10.1016/j.ab.2007.02.022 · Cited by 101 · see citing works
Helm, M., Florentz, C., Chomyn, A., & Attardi, G. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.3.756 · Cited by 99 · see citing works
Functional Delivery of a Cytosolic tRNA into Mutant Mitochondria of Human Cells
Mahata, B., Mukherjee, S., Mishra, S., Bandyopadhyay, A., & Adhya, S. (2006) · Science · doi:10.1126/science.1129754 · Cited by 99 · see citing works
Biosynthesis and function of tRNA wobble modifications
Suzuki, T. (2005) · Topics in current genetics · doi:10.1007/b106361 · Cited by 99 · see citing works
Enhanced ROS production and antioxidant defenses in cybrids harbouring mutations in mtDNA
Vives-Bauzá, C., Gonzalo, R., Manfredi, G., García‐Arumí, E., & Andreu, A. L. (2005) · Neuroscience Letters · doi:10.1016/j.neulet.2005.08.049 · Cited by 96 · see citing works
Zhao, H. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki262 · Cited by 95 · see citing works
Enrı́quez, J. A., Cabezas‐Herrera, J., Bayona‐Bafaluy, M. P., & Attardi, G. M. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.15.11207 · Cited by 94 · see citing works
James, A. M., Sheard, P. W., Wei, Y., & Murphy, M. P. (1999) · European Journal of Biochemistry · doi:10.1046/j.1432-1327.1999.00066.x · Cited by 93 · see citing works
Disorders of mitochondrial protein synthesis
Jacobs, H. T. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg285 · Cited by 91 · see citing works
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
Börner, G. V. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.467 · Cited by 92 · see citing works
RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis
Richter, U., Evans, M., Clark, W. C., Marttinen, P., Shoubridge, E. A., Suomalainen, A., Wredenberg, A., Wedell, A., Pan, T., & Battersby, B. J. (2018) · Nature Communications · doi:10.1038/s41467-018-06471-z · Cited by 91 · see citing works
Age-related changes in muscle calcium content in dystrophin-deficient mdx mice
Reeve, J. L., McArdle, A., & Jackson, M. J. (1997) · Muscle & Nerve · doi:10.1002/(sici)1097-4598(199703)20:3 · Cited by 24 · see citing works
Photobiomodulation enhancement of cell proliferation at 660 nm does not require cytochrome c oxidase
Lima, P. L. V., Pereira, C. V., Nissanka, N., Arguello, T., Gavini, G., Maranduba, C. M. D. C., Díaz, F., & Moraes, C. T. (2019) · Journal of Photochemistry and Photobiology B Biology · doi:10.1016/j.jphotobiol.2019.03.015 · Cited by 89 · see citing works
Mitochondrial Genetic Control of Assembly and Function of Complex I in Mammalian Cells
Chomyn, A. (2001) · Journal of Bioenergetics and Biomembranes · doi:10.1023/a:1010791204961 · Cited by 90 · see citing works
Zeviani, M., Tiranti, V., & Piantadosi, C. (1998) · Medicine · doi:10.1097/00005792-199801000-00006 · Cited by 87 · see citing works
Janssen, G. M. C., Maassen, J. A., & van den Ouweland, J. M. W. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.42.29744 · Cited by 86 · see citing works
mitoTev‐TALE: a monomeric DNA editing enzyme to reduce mutant mitochondrial DNA levels
Pereira, C. V., Bacman, S. R., Arguello, T., Zekonyte, U., Williams, S. L., Edgell, D. R., & Moraes, C. T. (2018) · EMBO Molecular Medicine · doi:10.15252/emmm.201708084 · Cited by 85 · see citing works
Watanabe, K. (2010) · Proceedings of the Japan Academy Series B · doi:10.2183/pjab.86.11 · Cited by 84 · see citing works
Human Mitochondrial Diseases Associated with tRNA Wobble Modification Deficiency
Kirino, Y., & Suzuki, T. (2005) · RNA Biology · doi:10.4161/rna.2.2.1610 · Cited by 84 · see citing works
Novel Mitochondrial DNA Mutation in tRNALys(8296A → G) Associated with Diabetes
Kameoka, K., Isotani, H., Tanaka, K., Azukari, K., Fujimura, Y., Shiota, Y., Sasaki, E., Majima, M., Furukawa, K., Haginomori, S., et al. (1998) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1998.8437 · Cited by 84 · see citing works
Bentlage, H., & Attardi, G. M. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.2.197 · Cited by 82 · see citing works
Wang, M., Liu, H., Zheng, J., Chen, B., Zhou, M., Fan, W., Wang, H., Liang, X., Zhou, X.-L., Eriani, G., et al. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.739482 · Cited by 79 · see citing works
Armengod, M. ‐., Meseguer, S., Villarroya, M., Prado, S., Moukadiri, I., Ruiz-Partida, R., Garzón, M. J., Navarro-González, C., & Martínez-Zamora, A. (2014) · RNA Biology · doi:10.4161/15476286.2014.992269 · Cited by 77 · see citing works
Cardiomyopathies in disorders of oxidative metabolism
Antozzi, C. G. (1997) · Cardiovascular Research · doi:10.1016/s0008-6363(97)00141-7 · Cited by 77 · see citing works
Mitochondrial diseases: Translation matters
Pearce, S. F., Nezich, C. L., & Spinazzola, A. (2012) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2012.08.013 · Cited by 75 · see citing works
RNA delivery into mitochondria.
Entelis, N., Kolesnikova, O., Martin, R., & Tarassov, I. (2001) · Advanced Drug Delivery Reviews · doi:10.1016/s0169-409x(01)00135-1 · Cited by 78 · see citing works
Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art
Smeitink, J. A. M. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.10.1573 · Cited by 75 · see citing works
Haque, M. E., Grasso, D., Miller, C., Spremulli, L. L., & Saada, A. (2008) · Mitochondrion · doi:10.1016/j.mito.2008.04.004 · Cited by 75 · see citing works
Rossmanith, W., & Karwan, R. M. (1998) · FEBS Letters · doi:10.1016/s0014-5793(98)00928-4 · Cited by 73 · see citing works
[17] Analysis of aminoacylation of human mitochondrial tRNAs
Enrı́quez, J. A., & Attardi, G. M. (1996) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(96)64019-1 · Cited by 73 · see citing works
Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease
Scaglia, F., & Wong, L. C. (2007) · Muscle & Nerve · doi:10.1002/mus.20917 · Cited by 71 · see citing works
D’Aurelio, M., Pallotti, F., Barrientos, A., Gajewski, C. D., Kwong, J. Q., Bruno, C., Beal, M. F., & Manfredi, G. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m106429200 · Cited by 71 · see citing works
Zhou, M., Xue, L., Chen, Y., Li, H., He, Q., Wang, B., Meng, F., Wang, M., & Guan, M. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.ra117.000317 · Cited by 70 · see citing works
Jia, Z., Zhang, Y., Li, Q., Ye, Z., Liu, Y., Fu, C., Cang, X., Wang, M., & Guan, M. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky1241 · Cited by 70 · see citing works
Role of taurine in the pathologies of MELAS and MERRF
Schaffer, S. W., Jong, C. J., Ito, T., & Azuma, J. (2012) · Amino Acids · doi:10.1007/s00726-012-1414-8 · Cited by 69 · see citing works
Mitochondrial tRNA mutations associated with deafness
Zheng, J., Ji, Y., & Guan, M. (2012) · Mitochondrion · doi:10.1016/j.mito.2012.04.001 · Cited by 66 · see citing works
Meseguer, S., Martínez-Zamora, A., García‐Arumí, E., Andreu, A. L., & Armengod, M. ‐. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu427 · Cited by 63 · see citing works
Human mitochondrial DNA diseases
Pulkes, T., & Hanna, M. G. (2001) · Advanced Drug Delivery Reviews · doi:10.1016/s0169-409x(01)00124-7 · Cited by 62 · see citing works
Chomyn, A. (1998) · The American Journal of Human Genetics · doi:10.1086/301813 · Cited by 62 · see citing works
Degoul, F. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.347 · Cited by 62 · see citing works
Hao, H., & Moraes, C. T. (1997) · Molecular and Cellular Biology · doi:10.1128/mcb.17.12.6831 · Cited by 61 · see citing works
- 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