Construction of Transgenic Mice with Tissue-Specific Acceleration of Mitochondrial DNA Mutagenesis

Rapid and efficient site-specific mutagenesis without phenotypic selection.

Kunkel, T. A. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.2.488 · Cited by 7,309

Current protocols in molecular biology

Sargent, T. (1988) · Analytical Biochemistry · doi:10.1016/0003-2697(88)90147-9 · Cited by 7,281

Oxidants, antioxidants, and the degenerative diseases of aging.

Ames, B. N., Shigenaga, M. K., & Hagen, T. M. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.17.7915 · Cited by 5,958

[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 5,191

Structural features in eukaryotic mRNAs that modulate the initiation of translation.

Kozak, M. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)54860-2 · Cited by 1,826

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

DNA Replication Fidelity

Kunkel, T. A. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.r400006200 · Cited by 754

[42]Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

Trounce, I. A., Kim, Y. L., Jun, A. S., & Wallace, D. C. (1996) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(96)64044-0 · Cited by 749

PCR fidelity of pfu DNA polymerase and other thermostable DNA polymerases

Cline, J. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.18.3546 · Cited by 736

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.

Cortopassi, G. A., Shibata, D. K., Soong, N.-W., & Arnheim, N. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.16.7370 · Cited by 639

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

Shoffner, J. M., Lott, M. T., Voljavec, A. S., Soueidan, S. A., Costigan, D. A., & Wallace, D. C. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.20.7952 · Cited by 507

Tissue-specific regulation of the alpha-myosin heavy chain gene promoter in transgenic mice.

Subramaniam, A., Jones, W. K., Gulick, J. M., Wert, S. E., Neumann, J. C., & Robbins, J. M. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)54273-3 · Cited by 470

Apparent Turnover of Mitochondrial Deoxyribonucleic Acid and Mitochondrial Phospholipids in the Tissues of the Rat

Gross, N. J., Getz, G. S., & Rabinowitz, M. (1969) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)91795-3 · Cited by 378

Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease

Corral‐Debrinski, M. (1991) · JAMA · doi:10.1001/jama.266.13.1812 · Cited by 341

Marked changes in mitochondrial DNA deletion levels in Alzheimer brains

Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., McKee, A. C., Beal, M. F., Graham, B. H., & Wallace, D. C. (1994) · Genomics · doi:10.1006/geno.1994.1525 · Cited by 309 · cited 1×

Mitochondria and Diabetes: Genetic, Biochemical, and Clinical Implications of the Cellular Energy Circuit

Gerbitz, K.-D., Gempel, K. E., & Brdiczka, D. G. (1996) · Diabetes · doi:10.2337/diab.45.2.113 · Cited by 291

Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle

Melov, S., Shoffner, J. M., Kaufman, A. E., & Wallace, D. C. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.20.4122 · Cited by 271

Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR

Simonetti, S., Chen, X., DiMauro, S., & Schon, E. A. (1992) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(92)90059-v · Cited by 242

A general structure for DNA-dependent DNA polymerases

Blanco, L., Bernad, A., Blasco, M. A., & Salas, M. (1991) · Gene · doi:10.1016/0378-1119(91)90346-d · Cited by 226

Deleterious mitochondrial DNA mutations accumulate in aging human tissues

Arnheim, N., & Cortopassi, G. A. (1992) · Mutation Research/DNAging · doi:10.1016/0921-8734(92)90020-p · Cited by 217

Multiple mitochondrial DNA deletions in an elderly human individual

Zhang, C., Baumer, A., Maxwell, R. J., Linnane, A. W., & Nagley, P. (1992) · FEBS Letters · doi:10.1016/0014-5793(92)80321-7 · Cited by 214

The 3′ → 5′ exonucleases of both DNA polymerases δ and ε participate in correcting errors of DNA replication in Saccharomyces cerevisiae

Morrison, A., & Sugino, A. (1994) · Molecular and General Genetics MGG · doi:10.1007/bf00280418 · Cited by 205

DNA replication fidelity.

Kunkel, T. A. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)36949-2 · Cited by 195

Mitochondria in organismal aging and degeneration

Cortopassi, G. A., & Wong, A. (1999) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00166-2 · Cited by 171

Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing

Liu, V. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.5.1268 · Cited by 168

Multiple Deletions Are Detectable in Mitochondrial DNA of Aging Mice

Tanhauser, S. M., & Laipis, P. J. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.42.24769 · Cited by 161

The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages

Münscher, C., Rieger, T., Müller‐Höcker, J., & Kadenbach, B. (1993) · FEBS Letters · doi:10.1016/0014-5793(93)81484-h · Cited by 143

Purification and identification of subunit structure of the human mitochondrial DNA polymerase.

Gray, H. B., & Wong, T. W. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)42629-4 · Cited by 140

Yeast mitochondrial DNA mutators with deficient proofreading exonucleolytic activity.

Foury, F., & Vanderstraeten, S. (1992) · The EMBO Journal · doi:10.1002/j.1460-2075.1992.tb05337.x · Cited by 138

Occurrence of a Particular Base Substitution (3243 A to G) in Mitochondrial DNA of Tissues of Ageing Humans

Zhang, C., Linnane, A. W., & Nagley, P. (1993) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1993.2158 · Cited by 134

Human aging is associated with stochastic somatic mutations of mitochondrial DNA

Kadenbach, B., Münscher, C., Frank, V., Müller‐Höcker, J., & Napiwotzki, J. (1995) · Mutation Research/DNAging · doi:10.1016/0921-8734(95)00021-w · Cited by 125

Rapid electroelution of nucleic acids from agarose and acrylamide gels

Zassenhaus, H. P., Butow, R. A., & Hannon, Y. P. (1982) · Analytical Biochemistry · doi:10.1016/0003-2697(82)90392-x · Cited by 103

Human Aging is Associated with Various Point Mutations in tRNA Genes of Mitochondrial DNA

Münscher, C., Müller‐Höcker, J., & Kadenbach, B. (1993) · Biological Chemistry Hoppe-Seyler · doi:10.1515/bchm3.1993.374.7-12.1099 · Cited by 96

Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging.

Pallotti, F., Chen, X., Bonilla, E., & Schon, E. A. (1996) · PubMed Central · Cited by 93

Detection and quantitation by competitive PCR of an age-associated increase in a 4.8-kb deletion in rat mitochondrial DNA

Edris, W. A., Burgett, B. L., Stine, O. C., & Filburn, C. R. (1994) · Mutation Research/DNAging · doi:10.1016/0921-8734(94)90009-4 · Cited by 77

Purification and Properties of Wild-type and Exonuclease-deficient DNA Polymerase II from Escherichia coli

Cai, H., Yu, H. Y., McEntee, K., Kunkel, T. A., & Goodman, M. F. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.25.15327 · Cited by 75

[28] Structure-function analysis of 3′ → 5′-exonuclease of DNA polymerases

Derbyshire, V., Pinsonneault, J. K., & Joyce, C. M. (1995) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(95)62030-3 · Cited by 65

Multi-stage proofreading in DNA replication

Beckman, R. A., & Loeb, L. A. (1993) · Quarterly Reviews of Biophysics · doi:10.1017/s0033583500002869 · Cited by 55

Isolation and characterization of ten mutator alleles of the mitochondrial DNA polymerase-encoding MIP1 gene from Saccharomyces cerevisiae

Hu, J., Vanderstraeten, S., & Foury, F. (1995) · Gene · doi:10.1016/0378-1119(95)00215-r · Cited by 45

Relationship of phosphoenolpyruvate transport, acyl coenzyme A inhibition of adenine nucleotide translocase and calcium ion efflux in guinea pig heart mitochondria

Sul, H. S., Shrago, E. S., & Shug, A. L. (1976) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(76)90071-0 · Cited by 40

Regional heterogeneity of mtDNA heteroplasmy in parkinsonian brain.

Schnopp, N. M., Kösel, S., Egensperger, R., & Graeber, M. B. (1996) · PubMed · Cited by 39

Mitochondrial DNA Mutations in Cardiomyopathy

Ito, T., Hattori, K., Obayashi, T., Tanaka, M., Sugiyama, S., & Ozawa, T. (1992) · Springer eBooks · doi:10.1007/978-4-431-68219-6_8 · Cited by 25

Mitochondrial DNA Mutations in Cardiomyopathy.

Ito, T., HATTORI, K., Obayashi, T., TANAKA, M., Sugiyama, S., & Ozawa, T. (1992) · Japanese Circulation Journal-english Edition · doi:10.1253/jcj.56.1045 · Cited by 22

Low Frequencies of Mitochondrial DNA Mutations Cause Cardiac Disease in the Mouse

Mott, J. L., Zhang, D., Farrar, P. L., Chang, S.-J., & Zassenhaus, H. P. (1999) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1999.tb07853.x · Cited by 17

Hypoxemia Is Associated With Mitochondrial DNA Damage and Gene Induction: Implications for Cardiac Disease

Corral-Debrinski, M. (1991) · JAMA · doi:10.1001/jama.1991.03470130092035 · Cited by 1

Trends in oxidative aging theories

Muller, F. L., Lustgarten, M. S., Jang, Y., Richardson, A., & Van Remmen, H. (2007) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2007.03.034 · Cited by 1,053

Brain aging and neurodegeneration: from a mitochondrial point of view

Grimm, A., & Eckert, A. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.14037 · Cited by 565

The fidelity of DNA synthesis by eukaryotic replicative and translesion synthesis polymerases

McCulloch, S. D., & Kunkel, T. A. (2008) · Cell Research · doi:10.1038/cr.2008.4 · Cited by 569

Mitochondrial toxicity of nrti antiviral drugs: an integrated cellular perspective

Lewis, W., Day, B. J., & Copeland, W. C. (2003) · Nature Reviews Drug Discovery · doi:10.1038/nrd1201 · Cited by 496

DNA Polymerase γ, The Mitochondrial Replicase

Kaguni, L. S. (2004) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.72.121801.161455 · Cited by 414

Transgenic mice Cre-dependently expressing mutant polymerase-gamma: novel test-system for pharmacological study of mitoprotective drugs

Kubekina, M. V., Silaeva, Y. Y., Bruter, A. V., Korshunova, D. S., Ilchuk, L. A., Okulova, Y. D., Soldatova, M. O., Seryogina, E. S., Kolesnik, I. M., Ukolova, P. A., et al. (2021) · Research Results in Pharmacology · doi:10.3897/rrpharmacology.7.72784 · Cited by 16

Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase γ

Lewis, W., Day, B. J., Kohler, J. J., Hosseini, S. H., Chan, S. S. L., Green, E. C., Haase, C. P., Keebaugh, E. S., Long, R., Ludaway, T., et al. (2007) · Laboratory Investigation · doi:10.1038/labinvest.3700523 · Cited by 121

Inducible Impairment of Polymerase Gamma Activity in Cardiomyocytes Promotes Severe Cardiomyopathy with Cardiac HepatopathyPreprint

Bond, S. T., Tan, Y., Walker, S., Jenkinson, S., Yang, C., Liu, Y., Liu, K. H., Kiriazis, H., Donner, D. G., Cross, J., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.02.17.706486

Chronic Apoptotic Signaling is Induced by Low Levels of Mitochondrial Dna Mutations in the Mouse Heart

Zhang, D., Mott, J. L., & Zassenhaus, H. P. (2001) · The Scientific World JOURNAL · doi:10.1100/tsw.2001.177

Genetic Changes in Human Mutant Polymerase Gamma (Pol [gamma]) Alters mtDNA Biogenetics and Impacts Cardiac Muscle Function

Kohler, J. J., Hosseini, S., Haase, C. P., Ludaway, T., Russ, R. B., Chan, S. S. L., Copeland, W. C., & Lewis, W. (2007) · The FASEB Journal · doi:10.1096/fasebj.21.5.a129-a