Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

[57] Sequencing end-labeled DNA with base-specific chemical cleavages

Maxam, A. M., & Gilbert, W. (1980) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(80)65059-9 · Cited by 14,678 · 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

[19] Rapid and efficient site-specific mutagenesis without phenotypic selection

Kunkel, T. A., Roberts, J. D., & Zakour, R. A. (1987) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(87)54085-x · Cited by 5,341 · see citing works

DNAase footprinting a simple method for the detection of protein-DNA binding specificity

Galas, D. J., & Schmitz, A. (1978) · Nucleic Acids Research · doi:10.1093/nar/5.9.3157 · Cited by 2,109 · see citing works

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

Goto, Y.-I., Nonaka, I., & Horai, S. (1990) · Nature · doi:10.1038/348651a0 · Cited by 2,070 · see citing works

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

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

Elution of proteins from sodium dodecyl sulfate-polyacrylamide gels, removal of sodium dodecyl sulfate, and renaturation of enzymatic activity: Results with sigma subunit of Escherichia coli RNA polymerase, wheat germ DNA topoisomerase, and other enzymes

Hager, D. A., & Burgess, R. R. (1980) · Analytical Biochemistry · doi:10.1016/0003-2697(80)90013-5 · Cited by 1,209 · see citing works

A single polypeptide possesses the binding and transcription activities of the adenovirus major late transcription factor.

Chodosh, L. A., Carthew, R. W., & Sharp, P. A. (1986) · Molecular and Cellular Biology · doi:10.1128/mcb.6.12.4723 · Cited by 414 · see citing works

A point mutation in the mitochondrial tRNALeu(UUR) gene in melas (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)

Kobayashi, Y., Momoi, M. Y., Tominaga, K., Momoi, T., Nihei, K., Yanagisawa, M., Kagawa, Y., & Ohta, S. (1990) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(05)80860-5 · Cited by 363 · see citing works

Purification and characterization of human mitochondrial transcription factor 1.

Fisher, R. P., & Clayton, D. A. (1988) · Molecular and Cellular Biology · doi:10.1128/mcb.8.8.3496 · Cited by 347 · see citing works

Termination of transcription in human mitochondria: Identification and purification of a DNA binding protein factor that promotes termination

Kruse, B., Narasimhan, N., & Attardi, G. M. (1989) · Cell · doi:10.1016/0092-8674(89)90853-2 · Cited by 311 · see citing works

Promoter selection in human mitochondria involves binding of a transcription factor to orientation-independent upstream regulatory elements

Fisher, R. P., Topper, J. N., & Clayton, D. A. (1987) · Cell · doi:10.1016/0092-8674(87)90220-0 · Cited by 256 · see citing works

A transcription factor required for promoter recognition by human mitochondrial RNA polymerase. Accurate initiation at the heavy- and light-strand promoters dissected and reconstituted in vitro.

Fisher, R. P., & Clayton, D. A. (1985) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)39184-6 · Cited by 217 · see citing works

A Tridecamer DNA Sequence Supports Human Mitochondrial RNA 3′-End Formation In Vitro

Christianson, T. W., & Clayton, D. A. (1988) · Molecular and Cellular Biology · doi:10.1128/mcb.8.10.4502-4509.1988 · Cited by 102 · see citing works

[40] Isolation of mammalian mitochondrial DNA and RNA and cloning of the mitochondrial genome

Tapper, D. P., Etten, R. A. V., & Clayton, D. A. (1983) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(83)97153-7 · Cited by 81 · see citing works

In vitro transcription of human mitochondrial DNA: accurate termination requires a region of DNA sequence that can function bidirectionally.

Christianson, T. W., & Clayton, D. A. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.17.6277 · Cited by 77 · see citing works

A tridecamer DNA sequence supports human mitochondrial RNA 3'-end formation in vitro.

Christianson, T. W., & Clayton, D. A. (1988) · Molecular and Cellular Biology · doi:10.1128/mcb.8.10.4502 · Cited by 58 · see citing works

Mitochondrial diseases: Gene mapping and gene therapy

Lander, E. S., & Lodish, H. F. (1990) · Cell · doi:10.1016/0092-8674(90)90055-j · Cited by 42 · see citing works

Mitochondrial Gene Products

Chomyn, A., & Attardi, G. M. (1987) · Current topics in bioenergetics · doi:10.1016/b978-0-12-152515-6.50014-x · Cited by 37 · see citing works

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 Genetics: A Paradigm for Aging and Degenerative Diseases?

Wallace, D. C. (1992) · Science · doi:10.1126/science.1533953 · Cited by 1,256 · 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

Human 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

Cyclins and cyclin-dependent kinases: a biochemical view

Pines, J. (1995) · Biochemical Journal · doi:10.1042/bj3080697 · Cited by 538 · see citing works

Electric-Acoustic Stimulation of the Auditory System

vonIlberg, C., Kiefer, J., Tillein, J., Pfenningdorff, T., Hartmann, R., Stürzebecher, E., & Klinke, R. (1999) · ORL · doi:10.1159/000027695 · Cited by 509 · see citing works

MELAS: Clinical features, biochemistry, and molecular genetics

Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C. T., Silvestri, G., Hirano, M., Simonetti, S., Angelini, C. I., Donati, M. A., Garcia, C., et al. (1992) · Annals of Neurology · doi:10.1002/ana.410310408 · Cited by 500 · see citing works

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

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

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

King, M. P., Koga, Y., Davidson, M., & Schon, E. A. (1992) · Molecular and Cellular Biology · doi:10.1128/mcb.12.2.480 · Cited by 458 · see citing works

BASIC MECHANISMS OF TRANSCRIPT ELONGATION AND ITS REGULATION

Uptain, S. M., Kane, C. M., & Chamberlin, M. J. (1997) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.66.1.117 · Cited by 445 · 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

Topical Review: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes (MELAS): Current Concepts

Hirano, M., & Pavlakis, S. G. (1994) · Journal of Child Neurology · doi:10.1177/088307389400900102 · Cited by 365 · see citing works

Transcription and Replication of Animal Mitochondrial DNAs

Clayton, D. A. (1992) · International review of cytology · doi:10.1016/s0074-7696(08)62067-7 · Cited by 360 · see citing works

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

Goto, Y., Nonaka, I., & Horai, S. (1991) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(91)90042-8 · Cited by 325 · see citing works

The development of mitochondrial medicine.

Luft, R. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.19.8731 · Cited by 302 · see citing works

Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease

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

MTERF4 Regulates Translation by Targeting the Methyltransferase NSUN4 to the Mammalian Mitochondrial Ribosome

Cámara, Y., Asin-Cayuela, J., Park, C. B., Metodiev, M. D., Shi, Y., Ruzzenente, B., Kukat, C., Habermann, B. H., Wibom, R., Hultenby, K. R., et al. (2011) · Cell Metabolism · doi:10.1016/j.cmet.2011.04.002 · Cited by 287 · see citing works

Nuclear Control of Respiratory Chain Expression in Mammalian Cells

Scarpulla, R. C. (1997) · Journal of Bioenergetics and Biomembranes · doi:10.1023/a:1022681828846 · Cited by 269 · see citing works

Modification Defect at Anticodon Wobble Nucleotide of Mitochondrial tRNAsLeu(UUR) with Pathogenic Mutations of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes

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

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

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

Moraes, C. T., Ricci, E., Bonilla, E., DiMauro, S., & Schon, E. A. (1992) · PubMed · Cited by 244 · see citing works

The application of mitochondrial DNA typing to the study of white Caucasian genetic identification

Piercy, R., Sullivan, K., Benson, N., & Gill, P. (2005) · Zeitschrift für Rechtsmedizin · doi:10.1007/bf01225046 · Cited by 116 · see citing works

Identification of Mitochondrial DNA Polymorphisms That Alter Mitochondrial Matrix pH and Intracellular Calcium Dynamics

Kazuno, A., Munakata, K., Nagai, T., Shimozono, S., Tanaka, M., Yoneda, M., Kato, N., Miyawaki, A., & Kato, T. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020128 · Cited by 234 · see citing works

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A., & DiMauro, S. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116913 · Cited by 218 · see citing works

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

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

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes

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

Termination Factor-Mediated DNA Loop between Termination and Initiation Sites Drives Mitochondrial rRNA Synthesis

Martin, M., Cho, J., Cesare, A. J., Griffith, J. D., & Attardi, G. M. (2005) · Cell · doi:10.1016/j.cell.2005.09.040 · Cited by 192 · see citing works

The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions

Fernández‐Silva, P., Martínez‐Azorín, F., Micol, V., & Attardi, G. M. (1997) · The EMBO Journal · doi:10.1093/emboj/16.5.1066 · Cited by 183 · see citing works

Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease

Kirino, Y., Goto, Y., Campos, Y., Arenas, J., & Suzuki, T. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0500563102 · Cited by 168 · see citing works

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.

Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K., Lightowlers, R. N., Turnbull, D. M., & Weber, K. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)36552-4 · Cited by 166 · see citing works

The MTERF family proteins: Mitochondrial transcription regulators and beyond

Roberti, M., Polosa, P. L., Bruni, F., Manzari, C., Deceglie, S., Gadaleta, M. N., & Cantatore, P. (2009) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.01.013 · Cited by 166 · see citing works

Human Mitochondrial DNA ReplicationPreprint

Holt, I. J., & Reyes, A. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012971 · Cited by 155 · see citing works

Direct Regulation of Mitochondrial RNA Synthesis by Thyroid Hormone

Enrı́quez, J. A., Fernández‐Silva, P., Garrido-Pérez, N., López-Pérez, M. J., Martos, A. P., & Montoya, J. (1999) · Molecular and Cellular Biology · doi:10.1128/mcb.19.1.657 · Cited by 152 · see citing works

Molecular basis of mitochondrial DNA disease

Brown, M. D., & Wallace, D. C. (1994) · Journal of Bioenergetics and Biomembranes · doi:10.1007/bf00763099 · Cited by 148 · see citing works

Human mitochondria and mitochondrial genome function as a single dynamic cellular unit.

Hayashi, J.-I., Takemitsu, M., Goto, Y., & Nonaka, I. (1994) · The Journal of Cell Biology · doi:10.1083/jcb.125.1.43 · Cited by 142 · see citing works

Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy

Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., et al. (1992) · American Heart Journal · doi:10.1016/0002-8703(92)90410-w · Cited by 124 · 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

Helix Unwinding and Base Flipping Enable Human MTERF1 to Terminate Mitochondrial Transcription

Yakubovskaya, E., Mejía, E., Byrnes, J., Hambardjieva, E., & García–Díaz, M. (2010) · Cell · doi:10.1016/j.cell.2010.05.018 · Cited by 125 · see citing works

Mitochondrial mutagenesis in human cells and tissues

Marcelino, L. A., & Thilly, W. G. (1999) · Mutation Research/DNA Repair · doi:10.1016/s0921-8777(99)00028-2 · Cited by 121 · see citing works

MTERF1 Binds mtDNA to Prevent Transcriptional Interference at the Light-Strand Promoter but Is Dispensable for rRNA Gene Transcription Regulation

Terzioglu, M., Ruzzenente, B., Harmel, J., Mourier, A., Jemt, E., López, M. D., Kukat, C., Stewart, J. B., Wibom, R., Meharg, C., et al. (2013) · Cell Metabolism · doi:10.1016/j.cmet.2013.03.006 · Cited by 118 · see citing works

Mitochondrial diabetes mellitus: Prevalence and clinical characterization of diabetes due to mitochondrial tRNALeU(UUR) gene mutation in Japanese patients

Katagiri, H., Asano, I., Ishihara, H., Inukai, K., Anai, M., Yazaki, Y., Oka, Y., Yamanouchi, T., Isukuda, K., Kikuchi, M., et al. (1994) · Diabetologia · doi:10.1007/s001250050139 · Cited by 118 · see citing works

Structure, mechanism, and regulation of mitochondrial DNA transcription initiation

Basu, U., Bostwick, A. M., Das, K., Dittenhafer‐Reed, K. E., & Patel, S. S. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.rev120.011202 · Cited by 114 · 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

The transcription machinery in mammalian mitochondria

Gaspari, M., Larsson, N., & Gustafsson, C. M. (2004) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2004.10.003 · Cited by 111 · see citing works

A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy

Goto, Y., Tojo, M., Tohyama, J., Horai, S., & Nonaka, I. (1992) · Annals of Neurology · doi:10.1002/ana.410310617 · Cited by 110 · see citing works

The Nucleus-encoded Protein MOC1 Is Essential for Mitochondrial Light Acclimation in Chlamydomonas reinhardtii

Schönfeld, C., Wobbe, L., Borgstädt, R., Kienast, A., Nixon, P. J., & Kruse, O. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m408477200 · Cited by 109 · see citing works

Ethidium Bromide-induced Inhibition of Mitochondrial Gene Transcription Suppresses Glucose-stimulated Insulin Release in the Mouse Pancreatic β-Cell Line βHC9*

Hayakawa, T., Noda, M., Yasuda, K., Yorifuji, H., Taniguchi, S., Miwa, I., Sakura, H., Terauchi, Y., Hayashi, J., Sharp, G. W., et al. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.32.20300 · Cited by 108 · see citing works

Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA

Malena, A., Loro, E., Di Re, M., Holt, I. J., & Vergani, L. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp281 · 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

Mitochondrial genetics and human disease

Grossman, L. I., & Shoubridge, E. A. (1996) · BioEssays · doi:10.1002/bies.950181208 · Cited by 107 · see citing works

Mitochondrial function in Parkinson's disease

Schapira, A. H. V., Mann, V. M., Cooper, J. A. D., Krige, D., Jenner, P. G., & MARSDEN, C. D. (1992) · Annals of Neurology · doi:10.1002/ana.410320720 · Cited by 106 · see citing works

Protein Binding to a Single Termination-Associated Sequence in the Mitochondrial DNA D-Loop Region

Madsen, C. S., Ghivizzani, S. C., & Hauswirth, W. W. (1993) · Molecular and Cellular Biology · doi:10.1128/mcb.13.4.2162-2171.1993 · Cited by 105 · see citing works

A compendium of human mitochondrial gene expression machinery with links to disease

Shutt, T. E., & Shadel, G. S. (2010) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20571 · Cited by 101 · see citing works

Arabidopsis RUGOSA2 encodes an mTERF family member required for mitochondrion, chloroplast and leaf development

Quesada, V., Sarmiento‐Mañús, R., González‐Bayón, R., Hricová, A., Pérez‐Marcos, R., Graciá, E., Medina‐Ruiz, L., Leyva‐Díaz, E., Ponce, M. R., & Micol, J. L. (2011) · The Plant Journal · doi:10.1111/j.1365-313x.2011.04726.x · Cited by 99 · see citing works

Molecular characterization of the transcription termination factor from human mitochondria.

Daga, A., Micol, V., Hess, D., Aebersold, R. H., & Attardi, G. M. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)53070-2 · Cited by 98 · see citing works

TOWARDS A GENETIC DISSECTION OF THE BASIS OF TRIPLET DECODING, AND ITS NATURAL SUBVERSION: Programmed Reading Frame Shifts and Hops

Atkins, J. F., Weiss, R. B., Thompson, S., & Gesteland, R. F. (1991) · Annual Review of Genetics · doi:10.1146/annurev.ge.25.120191.001221 · Cited by 96 · see citing works

Towards Understanding Human Mitochondrial Leucine Aminoacylation Identity

Sohm, B., Frugier, M., Brulé, H., Olszak, K., Przykorska, A., & Florentz, C. (2003) · Journal of Molecular Biology · doi:10.1016/s0022-2836(03)00373-5 · Cited by 92 · see citing works

Transmission of Mitochondrial DNA Diseases and Ways to Prevent Them

Poulton, J., Chiaratti, M. R., Meirelles, F. V., Kennedy, S., Wells, D., & Holt, I. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001066 · Cited by 92 · see citing works

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype

MORGAN-HUGHES, J. A., Sweeney, M. G., Cooper, J. A. D., Hammans, S. R., Brockington, M., Schapira, A. H. V., Harding, A. E., & Clark, J. B. (1995) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(95)00020-5 · Cited by 90 · see citing works

Pathophysiology of the MELAS 3243 Transition Mutation

Flierl, A., Reichmann, H., & Seibel, P. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.43.27189 · Cited by 90 · see citing works

Transcription Termination

Richardson, J. P., & Roberts, J. W. (1993) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409239309082571 · Cited by 86 · see citing works

Inhibition of mitochondrial protein synthesis promotes increased stability of nuclear-encoded respiratory gene transcripts.

Chrzanowska‐Lightowlers, Z. M., Preiß, T., & Lightowlers, R. N. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)46988-8 · Cited by 85 · see citing works

Emerging functions of mammalian and plant mTERFs

Kleine, T., & Leister, D. (2015) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2014.12.009 · Cited by 82 · see citing works

Mitochondrial heteroplasmy beyond the oocyte bottleneck

van den Ameele, J., Li, A. Y. Z., Ma, H., & Chinnery, P. F. (2019) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2019.10.001 · Cited by 76 · see citing works

Structure and function of the mitochondrial genome

Clayton, D. A. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799602 · Cited by 76 · see citing works

Mitochondrial DNA and RNA processing in MELAS

Kaufmann, P., Shanske, S., Hirano, M., DiMauro, S., King, M. P., Koga, Y., & Schon, E. A. (1996) · Annals of Neurology · doi:10.1002/ana.410400208 · Cited by 75 · see citing works

Mutations In mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegiaa

van den Ouweland, J. M. W., Bruining, G. J., Lindhout, D., Wit, J.-M., Veldhuyzen, B. F. E., & Maassen, J. A. (1992) · Nucleic Acids Research · doi:10.1093/nar/20.4.679 · Cited by 73 · see citing works

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

Lertrit, P., Noer, A. S., Jean-François, M. J. B., Kapsa, R. M. I., Dennett, X., Thyagarajan, D. E., Lethlean, K., Byrne, E., & Marzuki, S. (1992) · Europe PMC (PubMed Central) · Cited by 75 · see citing works

Impairment of tRNA processing by point mutations in mitochondrial tRNA^Leu(UUR) associated with mitochondrial diseases

Rossmanith, W., & Karwan, R. M. (1998) · FEBS Letters · doi:10.1016/s0014-5793(98)00928-4 · Cited by 73 · see citing works

The development of mitochondrial medicine

Luft, R. (1995) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(95)00002-l · Cited by 72 · see citing works

Molecular pathology of MELAS and l-arginine effects

Koga, Y., Povalko, N., Nishioka, J., Katayama, K., Yatsuga, S., & Matsuishi, T. (2011) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2011.09.005 · Cited by 71 · see citing works

Vertebrate Mitochondrial DNA—A Circle of Surprises

Clayton, D. A. (2000) · Experimental Cell Research · doi:10.1006/excr.1999.4763 · Cited by 68 · see citing works

Inhibition of Mitochondrial Function by Interferon

Lewis, J. A., Huq, A., & Najarro, P. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.22.13184 · Cited by 67 · see citing works

A Pathogenesis-associated Mutation in Human Mitochondrial tRNALeu(UUR) Leads to Reduced 3′-End Processing and CCA Addition

Levinger, L., Oestreich, I., Florentz, C., & Mörl, M. (2004) · Journal of Molecular Biology · doi:10.1016/j.jmb.2004.02.008 · Cited by 65 · see citing works

The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome

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

MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

Tanahashi, C., Nakayama, A., Yoshida, M., Ito, M., Mori, N., & Hashizume, Y. (2000) · Acta Neuropathologica · doi:10.1007/pl00007403 · Cited by 64 · see citing works

Mitochondrial gene mutations in gestational diabetes mellitus

Chen, Y., Liao, W. X., Roy, A. C., Loganath, A., & Ng, S. C. (2000) · Diabetes Research and Clinical Practice · doi:10.1016/s0168-8227(99)00138-2 · Cited by 64 · see citing works

A conserved heptamer motif for ribosomal RNA transcription termination in animal mitochondria.

Valverde, J. R., Marco, R., & Garesse, R. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.12.5368 · Cited by 60 · see citing works

A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome

Nishigaki, Y., Tadesse, S., Bonilla, E., Shungu, D. C., Hersh, S. P., Keats, B. J. B., Berlín, C. I., Goldberg, M. F., Vockley, J. E., DiMauro, S., et al. (2003) · Neuromuscular Disorders · doi:10.1016/s0960-8966(02)00283-3 · Cited by 60 · see citing works

Autonomous Regulation in Mammalian Mitochondrial DNA Transcription

Enrı́quez, J. A., Fernández‐Silva, P., & Montoya, J. (1999) · Biological Chemistry · doi:10.1515/bc.1999.094 · Cited by 59 · see citing works

Mitochondrial function in neurodegeneration and ageing

Schapira, A. H. V., & Cooper, J. A. D. (1992) · Mutation Research/DNAging · doi:10.1016/0921-8734(92)90018-k · Cited by 59 · see citing works

Functional and Molecular Mitochondrial Abnormalities Associated with a C → T Transition at Position 3256 of the Human Mitochondrial Genome

Hao, H., & Moraes, C. T. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.4.2347 · Cited by 59 · see citing works

[44]Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR

Moraes, C. T., & Schon, E. A. (1996) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(96)64046-4 · Cited by 56 · see citing works

Nuclear‐mitochondrial intergenomic communication

Clayton, D. A. (1998) · BioFactors · doi:10.1002/biof.5520070307 · Cited by 54 · see citing works

Mitochondrial Transfer of Wharton’s Jelly Mesenchymal Stem Cells Eliminates Mutation Burden and Rescues Mitochondrial Bioenergetics in Rotenone-Stressed MELAS Fibroblasts

Lin, T., Chen, S., Chuang, Y., Lan, M., Chuang, J., Wang, P., Hsu, T., Wang, F., Tsai, M., Huang, S., et al. (2019) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2019/9537504 · Cited by 53 · see citing works

Increased mitochondrial DNA in blood vessels and ragged‐red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

Tokunaga, M., Mita, S., Sakuta, R., Nonaka, I., & Araki, S. (1993) · Annals of Neurology · doi:10.1002/ana.410330308 · Cited by 53 · see citing works

Human mitochondrial transcription termination exhibits RNA polymerase independence and biased bipolarity in vitro.

Shang, J., & Clayton, D. A. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)62019-3 · Cited by 52 · see citing works

Diseases resulting from mitochondrial DNA point mutations

Wallace, D. C., Lott, M. T., Shoffner, J. M., & Brown, M. D. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799605 · Cited by 51 · see citing works

Mitochondrial DNA transcription and diseases: Past, present and future

Montoya, J., López-Pérez, M. J., & Ruiz‐Pesini, E. (2006) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2006.03.023 · Cited by 50 · see citing works

Cardiomyopathy and angiopathy in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

Sato, W., Tanaka, M., Sugiyama, S., Nemoto, T., Harada, K., Miura, Y., Kobayashi, Y., Goto, A., Takada, G., & Ozawa, T. (1994) · American Heart Journal · doi:10.1016/0002-8703(94)90272-0 · Cited by 49 · see citing works

Increased activities of antioxidant enzymes and decreased ATP concentration in cultured myoblasts with the 3243A→G mutation in mitochondrial DNA

Rusanen, H., Majamaa, K., & Hassinen, I. E. (2000) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/s0925-4439(99)00081-2 · Cited by 47 · see citing works

Resolving complexity in mitochondrial disease: Towards precision medicine

Boggan, R. M., Lim, A. Z., Taylor, R. W., McFarland, R., & Pickett, S. J. (2019) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2019.09.003 · Cited by 45 · see citing works

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 · see citing works

Comparison of the TEMPO+ Ear-Level Speech Processor and the CIS PRO+ Body-Worn Processor in Adult MED-EL Cochlear Implant Users

Helms, J., Müller, J., Schön, F., Winkler, F., Moser, L., Shehata-Dieler, W. E., Kastenbauer, E. R., Baumann, U., Rasp, G., Schorn, K., et al. (2001) · ORL · doi:10.1159/000055703 · Cited by 45 · see citing works

Defects of Mitochondrial DNA

Zeviani, M., & Antozzi, C. G. (1992) · Brain Pathology · doi:10.1111/j.1750-3639.1992.tb00680.x · Cited by 44 · see citing works

The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't

Jacobs, H. T. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.463 · Cited by 45 · see citing works

Heteroplasmic mitochondrial DNA variants in cardiovascular diseases

Calabrese, C., Pyle, A., Griffin, H. R., Coxhead, J. M., Hussain, R., Braund, P. S., Li, L., Burgess, A. I., Munroe, P. B., Little, L., et al. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010068 · Cited by 44 · see citing works

Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A comparative study

Sakuta, R., Goto, Y., Horai, S., & Nonaka, I. (1993) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(93)90219-o · Cited by 44 · see citing works

Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS

Koga, Y., Davidson, M. M., Schon, E. A., & King, M. P. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.3.657 · Cited by 44 · see citing works

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

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

Quantification of tRNA3243Leu point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

Suomalainen, A., Majander, A. S., Pihko, H. S., Peltonen, L., & Syvänen, A. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.5.525 · Cited by 66 · see citing works

Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS

Koga, Y., Davidson, M. M., Schon, E. A., & King, M. P. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.3.657 · Cited by 44 · see citing works

The mitochondrial tRNALeu(UUR) mutation in MELAS: a model for pathogenesis

Schon, E. A., Koga, Y., Davidson, M. M., Moraes, C. T., & King, M. P. (1992) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/0005-2728(92)90226-r · Cited by 74 · see citing works

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

Moraes, C. T., Ricci, E., Bonilla, E., DiMauro, S., & Schon, E. A. (1992) · PubMed · Cited by 244 · see citing works