Expression of catalytic mutants of the mtDNA helicase twinkle and polymerase POLG causes distinct replication stalling phenotypes

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

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M., & Howell, N. (1999) · Nature Genetics · doi:10.1038/13779 · Cited by 3,337 · see citing works

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Trifunovic, A., Wredenberg, A., Falkenberg, M., Spelbrink, J. N., Rovio, A. T., Bruder, C. E., Bohlooly-Y, M., Gidlöf, S., Oldfors, A., Wibom, R., et al. (2004) · Nature · doi:10.1038/nature02517 · Cited by 2,734 · see citing works

Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging

Kujoth, G. C., Hiona, A., Pugh, T. D., Someya, S., Panzer, K., Wohlgemuth, S. E., Hofer, T., Seo, A. Y., Sullivan, R., Jobling, W. A., et al. (2005) · Science · doi:10.1126/science.1112125 · Cited by 2,165 · see citing works

Replication of animal mitochondrial DNA

Clayton, D. A. (1982) · Cell · doi:10.1016/0092-8674(82)90049-6 · Cited by 1,236 · see citing works

The localization of replication origins on ARS plasmids in S. cerevisiae

Brewer, B. J., & Fangman, W. L. (1987) · Cell · doi:10.1016/0092-8674(87)90642-8 · Cited by 1,052 · see citing works

Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria

Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics · doi:10.1038/90058 · Cited by 882 · see citing works

A replication fork barrier at the 3′ end of yeast ribosomal RNA genes

Brewer, B. J., & Fangman, W. L. (1988) · Cell · doi:10.1016/0092-8674(88)90222-x · Cited by 552 · see citing works

Crystal Structure of T7 Gene 4 Ring Helicase Indicates a Mechanism for Sequential Hydrolysis of Nucleotides

Singleton, M. R., Sawaya, M. R., Ellenberger, T., & Wigley, D. B. (2000) · Cell · doi:10.1016/s0092-8674(00)80871-5 · Cited by 470 · see citing works

The single-stranded DNA-binding protein of Escherichia coli

Meyer, R. R., & Laine, P. S. (1990) · Microbiological Reviews · doi:10.1128/mr.54.4.342-380.1990 · Cited by 429 · see citing works

Coupled Leading- and Lagging-Strand Synthesis of Mammalian Mitochondrial DNA

Holt, I. J., Lorimer, H. E., & Jacobs, H. T. (2000) · Cell · doi:10.1016/s0092-8674(00)80688-1 · Cited by 418 · see citing works

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 · see citing works

Reconstitution of a minimal mtDNA replisome in vitro

Korhonen, J. A., Pham, X. H., Pellegrini, M., & Falkenberg, M. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600257 · Cited by 404 · see citing works

Composition and dynamics of human mitochondrial nucleoids.

Garrido, N., Griparić, L., Jokitalo, E., Wartiovaara, J., van der Bliek, A. M., & Spelbrink, J. (2003) · Molecular Biology of the Cell · doi:10.1091/mbc.e02-07-0399 · Cited by 390 · see citing works

Organization and dynamics of human mitochondrial DNA

Legros, F., Malka, F., Frachon, P., Lombès, A., & Rojo, M. (2004) · Journal of Cell Science · doi:10.1242/jcs.01134 · Cited by 383 · see citing works

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

Tyynismaa, H., Mjosund, K. P., Wanrooij, S., Lappalainen, I., Ylikallio, E., Jalanko, A., Spelbrink, J. N., Paetau, A., & Suomalainen, A. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505551102 · Cited by 342 · see citing works

TWINKLE Has 5' −>3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein

Korhonen, J. A., Gaspari, M., & Falkenberg, M. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m306981200 · Cited by 298 · see citing works

Crystal Structure of the Helicase Domain from the Replicative Helicase-Primase of Bacteriophage T7

Sawaya, M. R., Guo, S., Tabor, S., Richardson, C. C., & Ellenberger, T. (1999) · Cell · doi:10.1016/s0092-8674(00)81648-7 · Cited by 279 · see citing works

Biased Incorporation of Ribonucleotides on the Mitochondrial L-Strand Accounts for Apparent Strand-Asymmetric DNA Replication

Yang, M., Bowmaker, M., Reyes, A., Vergani, L., Angeli, P., Gringeri, E., Jacobs, H. T., & Holt, I. J. (2002) · Cell · doi:10.1016/s0092-8674(02)01075-9 · Cited by 275 · see citing works

[46] Analysis of replication intermediates by two-dimensional agarose gel electrophoresis

Friedman, K. L., & Brewer, B. J. (1995) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(95)62048-6 · Cited by 270 · see citing works

Identification of residues critical for the polymerase activity of the Klenow fragment of DNA polymerase I from Escherichia coli.

Polesky, A. H., Steitz, T. A., Grindley, N. D. F., & Joyce, C. M. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)77342-0 · Cited by 259 · see citing works

Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand

Yasukawa, T., Reyes, A., Cluett, T. J., Yang, M., Bowmaker, M., Jacobs, H. T., & Holt, I. J. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7601392 · Cited by 251 · see citing works

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

Tyynismaa, H., Sembongi, H., Bokori-Brown, M., Granycome, C., Ashley, N., Poulton, J., Jalanko, A., Spelbrink, J. N., Holt, I. J., & Suomalainen, A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh342 · Cited by 250 · see citing works

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Longley, M. J., Clark, S., Yu Wai Man, C., Hudson, G., Durham, S. E., Taylor, R. W., Nightingale, S., Turnbull, D. M., Copeland, W. C., & Chinnery, P. F. (2006) · The American Journal of Human Genetics · doi:10.1086/504303 · Cited by 248 · see citing works

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

Nikali, K., Suomalainen, A., Saharinen, J., Kuokkanen, M., Spelbrink, J. N., Lönnqvist, T. R. I., & Peltonen, L. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi328 · Cited by 223 · see citing works

Replication of mitochondrial DNA occurs by strand displacement with alternative light-strand origins, not via a strand-coupled mechanismPreprint

Brown, T. A., Cecconi, C., Tkachuk, A. N., Bustamante, C., & Clayton, D. A. (2005) · Genes & Development · doi:10.1101/gad.1352105 · Cited by 221 · see citing works

Regulation of mitochondrial D‐loops by transcription factor A and single‐stranded DNA‐binding protein

Takamatsu, C., Umeda, S., Ohsato, T., Ohno, T., Abe, Y., Fukuoh, A., Shinagawa, H., Hamasaki, N., & Kang, D. (2002) · EMBO Reports · doi:10.1093/embo-reports/kvf099 · Cited by 220 · see citing works

Mammalian Mitochondrial DNA Replicates Bidirectionally from an Initiation Zone

Bowmaker, M., Yang, M., Yasukawa, T., Reyes, A., Jacobs, H. T., Huberman, J. A., & Holt, I. J. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m308028200 · Cited by 218 · see citing works

Replication of Mitochondrial DNA. Circular Replicative Intermediates in Mouse L Cells

Robberson, D. L., Kasamatsu, H., & Vinograd, J. R. (1972) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.69.3.737 · Cited by 213 · see citing works

Bacteriophage origins of mitochondrial replication and transcription proteins

Shutt, T. E., & Gray, M. W. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.11.007 · Cited by 212 · see citing works

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

Spelbrink, J. N., Toivonen, J. M., Hakkaart, G. A. J., Kurkela, J. M., Cooper, H. M., Lehtinen, S. K., Lecrenier, N., Back, J. W., Speijer, D., Foury, F., et al. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m000559200 · Cited by 193 · see citing works

Side chains involved in catalysis of the polymerase reaction of DNA polymerase I from Escherichia coli.

Polesky, A. H., Dahlberg, M. E., Benkovic, S. J., Grindley, N. D. F., & Joyce, C. M. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)42461-1 · Cited by 191 · see citing works

A Bidirectional Origin of Replication Maps to the Major Noncoding Region of Human Mitochondrial DNA

Yasukawa, T., Yang, M., Jacobs, H. T., & Holt, I. J. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.05.002 · Cited by 173 · see citing works

The single-stranded DNA-binding protein of Escherichia coli.

Meyer, R. R., & Laine, P. S. (1990) · Microbiological Reviews · doi:10.1128/mmbr.54.4.342-380.1990 · Cited by 164 · see citing works

Chromosome abnormalities and genetic counseling, 3rd edn

Slavotinek, A. M. (2004) · PubMed Central · Cited by 143 · see citing works

Consequences of mutations in human DNA polymerase γ

Longley, M. J., Graziewicz, M. A., Bienstock, R. J., & Copeland, W. C. (2005) · Gene · doi:10.1016/j.gene.2005.03.029 · Cited by 140 · see citing works

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 · see citing works

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

Graziewicz, M. A., Longley, M. J., Bienstock, R. J., Zeviani, M., & Copeland, W. C. (2004) · Nature Structural & Molecular Biology · doi:10.1038/nsmb805 · Cited by 131 · see citing works

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

Wanrooij, S. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh634 · Cited by 127 · see citing works

Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)

Tiranti, V., Rocchi, M., DiDonato, S., & Zeviani, M. (1993) · Gene · doi:10.1016/0378-1119(93)90370-i · Cited by 120 · see citing works

Twinkle, the Mitochondrial Replicative DNA Helicase, Is Widespread in the Eukaryotic Radiation and May Also Be the Mitochondrial DNA Primase in Most Eukaryotes

Shutt, T. E., & Gray, M. W. (2006) · Journal of Molecular Evolution · doi:10.1007/s00239-005-0162-8 · Cited by 111 · see citing works

DNA-Induced Switch from Independent to Sequential dTTP Hydrolysis in the Bacteriophage T7 DNA Helicase

Crampton, D. J., Mukherjee, S., & Richardson, C. C. (2006) · Molecular Cell · doi:10.1016/j.molcel.2005.11.027 · Cited by 108 · see citing works

Biochemical Analysis of Mutant T7 Primase/Helicase Proteins Defective in DNA Binding, Nucleotide Hydrolysis, and the Coupling of Hydrolysis with DNA Unwinding

Washington, M. T., Rosenberg, A. H., Griffin, K. P., Studier, F. W., & Patel, S. S. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.43.26825 · Cited by 103 · see citing works

The Role of 3′-5′ Exonucleolytic Proofreading and Mismatch Repair in Yeast Mitochondrial DNA Error Avoidance

Vanderstraeten, S., van den Brûle, S., Hu, J., & Foury, F. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.37.23690 · Cited by 91 · see citing works

The Linker Region between the Helicase and Primase Domains of the Bacteriophage T7 Gene 4 Protein Is Critical for Hexamer Formation

Guo, S., Tabor, S., & Richardson, C. C. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.42.30303 · Cited by 91 · see citing works

Inducible Expression of a Dominant Negative DNA Polymerase-γ Depletes Mitochondrial DNA and Produces a ρ0Phenotype

Jazayeri, M., Andreyev, A. Y., Will, Y., et al. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m211730200 · Cited by 70 · see citing works

Two-dimensional gel analysis of rolling circle replication in the presence and absence of bacteriophage T4 primase

Belanger, K. G. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.11.2166 · Cited by 48 · see citing works

Characterization of Novel Reverse Transcriptase and Other RNA-associated Catalytic Activities by Human DNA Polymerase γ

Murakami, E., Feng, J. Y., Lee, H., Hanes, J. W., Johnson, K. A., & Anderson, K. S. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m306236200 · Cited by 47 · see citing works

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 · see citing works

Replication of mitochondrial DNA

Gause, G. G., & Dolgilevich, S. M. (1975) · Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis · doi:10.1016/0005-2787(75)90240-3 · Cited by 40 · see citing works

A computer model for the analysis of DNA replication intermediates by two-dimensional agarose gel electrophoresis

Viguera, E., Rodríguez, A., Hernández, P., et al. (1998) · Gene · doi:10.1016/s0378-1119(98)00375-8 · Cited by 20 · see citing works

Replication, repair, and recombination of mitochondrial DNA

Spelbrink, J. N. (2003) · doi:10.1093/oso/9780198508656.003.0001 · Cited by 1 · see citing works

ER-mitochondria contacts couple mtDNA synthesis with mitochondrial division in human cells

Lewis, S. C., Uchiyama, L. F., & Nunnari, J. (2016) · Science · doi:10.1126/science.aaf5549 · Cited by 673 · see citing works

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum, C., Nicholls, T. J., Haack, T. B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2501 · Cited by 232 · see citing works

Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases

DeBalsi, K. L., Hoff, K. E., & Copeland, W. C. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2016.04.006 · Cited by 180 · see citing works

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

Milenkovic, D., Matic, S., Kuhl, I., Ruzzenente, B., Freyer, C., Jemt, E., Park, C. B., Falkenberg, M., & Larsson, N.-G. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt051 · Cited by 173 · see citing works

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Goffart, S., Cooper, H. M., Tyynismaa, H., Wanrooij, S., Suomalainen, A., & Spelbrink, J. N. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn359 · Cited by 138 · see citing works

Human mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicase

Sen, D., Nandakumar, D., Tang, G.-Q., & Patel, S. S. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.309468 · Cited by 63 · see citing works

Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number

Pohjoismäki, J. L. O., Goffart, S., Taylor, R. W., Turnbull, D. M., Suomalainen, A., Jacobs, H. T., & Karhunen, P. J. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010426 · Cited by 50 · see citing works

Overexpression of twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species

Pohjoismäki, J. L. O., Williams, S. L., Boettger, T., Goffart, S., Kim, J., Suomalainen, A., Moraes, C. T., & Braun, T. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1303046110 · Cited by 45 · see citing works

Low doses of ultraviolet radiation and oxidative damage induce dramatic accumulation of mitochondrial DNA replication intermediates, fork regression, and replication initiation shift

Torregrosa-Muñumer, R., Goffart, S., Haikonen, J. A., & Pohjoismäki, J. L. O. (2015) · Molecular Biology of the Cell · doi:10.1091/mbc.e15-06-0390 · Cited by 42 · see citing works

Regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon and the initiation of DNA replication in Escherichia coli K-12

Lupski, J. R., Smiley, B. L., & Godson, G. N. (1983) · Molecular and General Genetics MGG · doi:10.1007/bf00326054 · Cited by 73 · see citing works

“Nick translation” in Escherichia coli rep strains deficient in DNA polymerase I activities

Hours, C., & Denhardt, D. T. (1979) · Molecular and General Genetics MGG · doi:10.1007/bf00276217 · Cited by 1 · see citing works

DNA polymerase IV mediates efficient and quick recovery of replication forks stalled at N2-dG adducts

Ikeda, M., Furukohri, A., Philippin, G., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku547 · Cited by 36 · see citing works

Escherichia coli response to replication stress mediated by hydroxyurea

Connelly, N. M. (2012) · doi:10.17760/d20002843

Coordinated leading- and lagging-strand synthesis at the Escherichia coli DNA replication fork. IV. Reconstitution of an asymmetric, dimeric DNA polymerase III holoenzyme.

Wu, C. A., Zechner, E. L., Hughes, A. J., et al. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)50631-7 · Cited by 72 · see citing works