{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T01:27:07Z","timestamp":1789003627184,"version":"build-2803163510"},"reference-count":161,"publisher":"Oxford University Press (OUP)","issue":"16","license":[{"start":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T00:00:00Z","timestamp":1684713600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R35GM130322"],"award-info":[{"award-number":["R35GM130322"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001858","name":"Swedish Governmental Agency for Innovation Systems","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001858","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NovoNordisk","award":["NNF21OC0072778"],"award-info":[{"award-number":["NNF21OC0072778"]}]},{"name":"Pioneer Innovator 2-2021"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Friedreich's ataxia (FRDA) is caused by expansions of GAA\u2022TTC repeats in the first intron of the human FXN gene that occur\u00a0during both intergenerational transmissions and in somatic cells. Here we describe an experimental system to analyze large-scale repeat expansions in cultured human cells. It employs a shuttle plasmid that can replicate from the SV40 origin in human cells or be stably maintained in S. cerevisiae utilizing ARS4-CEN6. It also contains a selectable cassette allowing us to detect repeat expansions that accumulated in human cells upon plasmid transformation into yeast. We indeed observed massive expansions of GAA\u2022TTC repeats, making it the first genetically tractable experimental system to study large-scale repeat expansions in human cells. Further, GAA\u2022TTC repeats stall replication fork progression, while the frequency of repeat expansions appears to depend on proteins implicated in replication fork stalling, reversal, and restart. Locked nucleic acid (LNA)-DNA mixmer oligonucleotides and peptide nucleic acid (PNA) oligomers, which interfere with triplex formation at GAA\u2022TTC repeats in vitro, prevented the expansion of these repeats in human cells. We hypothesize, therefore, that triplex formation by GAA\u2022TTC repeats stall replication fork progression, ultimately leading to repeat expansions during replication fork restart.<\/jats:p>","DOI":"10.1093\/nar\/gkad441","type":"journal-article","created":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T15:33:41Z","timestamp":1684769621000},"page":"8532-8549","source":"Crossref","is-referenced-by-count":17,"title":["Large-scale expansions of Friedreich's ataxia GAA\u2022TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers"],"prefix":"10.1093","volume":"51","author":[{"given":"Anastasia","family":"Rastokina","sequence":"first","affiliation":[{"name":"Department of Biology, Tufts University , Medford , MA \u00a002155, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5070-0070","authenticated-orcid":false,"given":"Jorge","family":"Cebri\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Biology, Tufts University , Medford , MA \u00a002155, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Negin","family":"Mozafari","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Translational Research Center Karolinska (TRACK), Karolinska Institutet, Karolinska University Hospital , SE-171 77\u00a0 Stockholm , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas H","family":"Mandel","sequence":"additional","affiliation":[{"name":"Department of Biology, Tufts University , Medford , MA \u00a002155, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C I\u00a0Edvard","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Translational Research Center Karolinska (TRACK), Karolinska Institutet, Karolinska University Hospital , SE-171 77\u00a0 Stockholm , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Lopes","sequence":"additional","affiliation":[{"name":"Institute of Molecular Cancer Research, University of Zurich , Zurich \u00a08057, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rula","family":"Zain","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Translational Research Center Karolinska (TRACK), Karolinska Institutet, Karolinska University Hospital , SE-171 77\u00a0 Stockholm , Sweden"},{"name":"Center for Rare Diseases, Karolinska University Hospital , SE-17176\u00a0 Stockholm , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4576-7582","authenticated-orcid":false,"given":"Sergei\u00a0M","family":"Mirkin","sequence":"additional","affiliation":[{"name":"Department of Biology, Tufts University , Medford , MA \u00a002155, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,5,22]]},"reference":[{"key":"2023091309533613900_B1","doi-asserted-by":"crossref","first-page":"4134","DOI":"10.1074\/jbc.REV119.007678","article-title":"On the wrong DNA track: molecular mechanisms of repeat-mediated genome instability","volume":"295","author":"Khristich","year":"2020","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B2","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1038\/nrg2828","article-title":"Mechanisms of trinucleotide repeat instability during human development","volume":"11","author":"McMurray","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"2023091309533613900_B3","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1016\/j.molmed.2003.09.006","article-title":"Slipping while sleeping? Trinucleotide repeat expansions in germ cells","volume":"9","author":"Pearson","year":"2003","journal-title":"Trends Mol. Med."},{"key":"2023091309533613900_B4","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"key":"2023091309533613900_B5","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s00415-009-1003-2","article-title":"The pathogenesis of Friedreich ataxia and the structure and function of frataxin","volume":"256","author":"Pandolfo","year":"2009","journal-title":"J. Neurol."},{"key":"2023091309533613900_B6","first-page":"6932","article-title":"Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus","volume":"24","author":"Li","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"2023091309533613900_B7","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/nchembio815","article-title":"Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia","volume":"2","author":"Herman","year":"2006","journal-title":"Nat. Chem. Biol."},{"key":"2023091309533613900_B8","doi-asserted-by":"crossref","first-page":"6056","DOI":"10.1093\/nar\/gkn604","article-title":"Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia","volume":"36","author":"Soragni","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B9","doi-asserted-by":"crossref","first-page":"2174","DOI":"10.1111\/bph.12470","article-title":"Fixing frataxin: \u2018ironing out\u2019 the metabolic defect in Friedreich's ataxia","volume":"171","author":"Anzovino","year":"2014","journal-title":"Br. J. Pharmacol."},{"key":"2023091309533613900_B10","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/ng0897-345","article-title":"Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin","volume":"16","author":"Koutnikova","year":"1997","journal-title":"Nat. Genet."},{"key":"2023091309533613900_B11","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/S1388-2457(00)00290-X","article-title":"Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease","volume":"111","author":"Santoro","year":"2000","journal-title":"Clin. Neurophysiol."},{"key":"2023091309533613900_B12","doi-asserted-by":"crossref","first-page":"104606","DOI":"10.1016\/j.nbd.2019.104606","article-title":"Friedreich ataxia- pathogenesis and implications for therapies","volume":"132","author":"Delatycki","year":"2019","journal-title":"Neurobiol. Dis."},{"key":"2023091309533613900_B13","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1093\/hmg\/6.11.1771","article-title":"Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes","volume":"6","author":"Campuzano","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"2023091309533613900_B14","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.pjnns.2018.02.003","article-title":"Progress in the treatment of Friedreich ataxia","volume":"52","author":"Tai","year":"2018","journal-title":"Neurol. Neurochir. Pol."},{"key":"2023091309533613900_B15","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1089\/hum.2013.180","article-title":"Cell and gene therapy for Friedreich ataxia: progress to date","volume":"25","author":"Evans-Galea","year":"2014","journal-title":"Hum. Gene Ther."},{"key":"2023091309533613900_B16","doi-asserted-by":"crossref","first-page":"36773","DOI":"10.1074\/jbc.M113.525857","article-title":"Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly","volume":"288","author":"Pandey","year":"2013","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B17","first-page":"101","article-title":"Hypoplasia of spinal cord and dorsal root ganglia","volume":"76","author":"Koeppen","year":"2017","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"2023091309533613900_B18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2011.01.010","article-title":"Friedreich's ataxia: pathology, pathogenesis, and molecular genetics","volume":"303","author":"Koeppen","year":"2011","journal-title":"J. Neurol. Sci."},{"key":"2023091309533613900_B19","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.3390\/ijms22041815","article-title":"Future prospects of gene therapy for Friedreich's","volume":"22","author":"Ocana-Santero","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"2023091309533613900_B20","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/emmm.201000064","article-title":"Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation","volume":"2","author":"Punga","year":"2010","journal-title":"EMBO Mol. Med."},{"key":"2023091309533613900_B21","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1080\/21541264.2015.1026538","article-title":"Friedreich's ataxia\u2013a case of aberrant transcription termination?","volume":"6","author":"Butler","year":"2015","journal-title":"Transcription"},{"key":"2023091309533613900_B22","doi-asserted-by":"crossref","first-page":"11497","DOI":"10.1073\/pnas.0604939103","article-title":"DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia","volume":"103","author":"Burnett","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B23","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1093\/hmg\/ddm346","article-title":"The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues","volume":"17","author":"Al-Mahdawi","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"2023091309533613900_B24","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/S1097-2765(00)80058-1","article-title":"GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases","volume":"1","author":"Gacy","year":"1998","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B25","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1093\/nar\/gkh274","article-title":"Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH","volume":"32","author":"Potaman","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B26","doi-asserted-by":"crossref","first-page":"e0165788","DOI":"10.1371\/journal.pone.0165788","article-title":"Disruption of higher order DNA structures in Friedreich's Ataxia (GAA)n repeats by PNA or LNA targeting","volume":"11","author":"Bergquist","year":"2016","journal-title":"PLoS One"},{"key":"2023091309533613900_B27","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00412-002-0198-0","article-title":"Triplex-forming dnas in the human interphase nucleus visualized in situ by polypurine\/polypyrimidine DNA probes and antitriplex antibodies","volume":"111","author":"Ohno","year":"2002","journal-title":"Chromosoma"},{"key":"2023091309533613900_B28","doi-asserted-by":"crossref","first-page":"2629","DOI":"10.1002\/cbic.200900263","article-title":"Structure-specific recognition of Friedreich's ataxia (GAA)n repeats by benzoquinoquinoxaline derivatives","volume":"10","author":"Bergquist","year":"2009","journal-title":"ChemBioChem"},{"key":"2023091309533613900_B29","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1007\/s00018-003-3046-3","article-title":"Do natural DNA triple-helical structures occur and function in vivo?","volume":"60","author":"Zain","year":"2003","journal-title":"Cell. Mol. Life Sci."},{"key":"2023091309533613900_B30","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.jmb.2006.05.025","article-title":"Sticky DNA: in vivo formation in E. coli and in vitro association of long GAA*TTC tracts to generate two independent supercoiled domains","volume":"360","author":"Son","year":"2006","journal-title":"J. Mol. Biol."},{"key":"2023091309533613900_B31","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/S1097-2765(00)80474-8","article-title":"Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia","volume":"3","author":"Sakamoto","year":"1999","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B32","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1136\/jmg.35.9.713","article-title":"Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene","volume":"35","author":"Delatycki","year":"1998","journal-title":"J. Med. Genet."},{"key":"2023091309533613900_B33","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1086\/513887","article-title":"Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat","volume":"61","author":"Monros","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"2023091309533613900_B34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ygeno.2007.04.001","article-title":"Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life","volume":"90","author":"De\u00a0Biase","year":"2007","journal-title":"Genomics"},{"key":"2023091309533613900_B35","doi-asserted-by":"crossref","first-page":"5962","DOI":"10.1093\/nar\/gkh933","article-title":"Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia","volume":"32","author":"Pollard","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B36","doi-asserted-by":"crossref","first-page":"e0189990","DOI":"10.1371\/journal.pone.0189990","article-title":"Somatic instability of the expanded GAA repeats in Friedreich's ataxia","volume":"12","author":"Long","year":"2017","journal-title":"PLoS One"},{"key":"2023091309533613900_B37","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/ana.21052","article-title":"Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients","volume":"61","author":"De\u00a0Biase","year":"2007","journal-title":"Ann. Neurol."},{"key":"2023091309533613900_B38","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s00018-009-0131-2","article-title":"Non-B DNA structure-induced genetic instability and evolution","volume":"67","author":"Zhao","year":"2010","journal-title":"Cell. Mol. Life Sci."},{"key":"2023091309533613900_B39","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.dnarep.2014.03.017","article-title":"Impact of alternative DNA structures on DNA damage, DNA repair, and genetic instability","volume":"19","author":"Wang","year":"2014","journal-title":"DNA Repair (Amst.)"},{"key":"2023091309533613900_B40","doi-asserted-by":"crossref","first-page":"1854","DOI":"10.1212\/WNL.53.8.1854","article-title":"A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis","volume":"53","author":"Ohshima","year":"1999","journal-title":"Neurology"},{"key":"2023091309533613900_B41","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1073\/pnas.88.2.507","article-title":"Formation of DNA triplexes accounts for arrests of DNA synthesis at d(TC)n and d(GA)n tracts","volume":"88","author":"Baran","year":"1991","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B42","doi-asserted-by":"crossref","first-page":"2286","DOI":"10.1128\/MCB.24.6.2286-2295.2004","article-title":"Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo","volume":"24","author":"Krasilnikova","year":"2004","journal-title":"Mol. Cell. Biol."},{"key":"2023091309533613900_B43","doi-asserted-by":"crossref","first-page":"3964","DOI":"10.1093\/nar\/gks021","article-title":"Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells","volume":"40","author":"Chandok","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B44","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1038\/nsmb.2520","article-title":"Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions","volume":"20","author":"Follonier","year":"2013","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023091309533613900_B45","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1016\/j.celrep.2016.06.075","article-title":"Stalled DNA replication forks at the endogenous GAA repeats drive repeat expansion in Friedreich's","volume":"16","author":"Gerhardt","year":"2016","journal-title":"Cell Rep."},{"key":"2023091309533613900_B46","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.molcel.2009.06.017","article-title":"Large-scale expansions of Friedreich's ataxia GAA repeats in yeast","volume":"35","author":"Shishkin","year":"2009","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B47","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/j.molcel.2012.08.002","article-title":"Genome-wide screen identifies pathways that govern GAA\/TTC repeat fragility and expansions in dividing and nondividing yeast cells","volume":"48","author":"Zhang","year":"2012","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B48","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1016\/j.celrep.2012.10.006","article-title":"Role of DNA polymerases in repeat-mediated genome instability","volume":"2","author":"Shah","year":"2012","journal-title":"Cell Rep."},{"key":"2023091309533613900_B49","doi-asserted-by":"crossref","first-page":"15855","DOI":"10.1038\/ncomms15855","article-title":"Phosphate steering by Flap Endonuclease 1 promotes 5'-flap specificity and incision to prevent genome instability","volume":"8","author":"Tsutakawa","year":"2017","journal-title":"Nat. Commun."},{"key":"2023091309533613900_B50","doi-asserted-by":"crossref","DOI":"10.1002\/bies.201700077","article-title":"Precarious maintenance of simple DNA repeats in eukaryotes","volume":"39","author":"Neil","year":"2017","journal-title":"Bioessays"},{"key":"2023091309533613900_B51","doi-asserted-by":"crossref","first-page":"3487","DOI":"10.1093\/nar\/gky099","article-title":"RNA-DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication","volume":"46","author":"Neil","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B52","doi-asserted-by":"crossref","first-page":"6352","DOI":"10.1093\/nar\/gkl846","article-title":"Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats","volume":"34","author":"Rindler","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B53","doi-asserted-by":"crossref","first-page":"2896","DOI":"10.1038\/emboj.2008.205","article-title":"Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair","volume":"27","author":"Kim","year":"2008","journal-title":"EMBO J."},{"key":"2023091309533613900_B54","doi-asserted-by":"crossref","first-page":"e2013080118","DOI":"10.1073\/pnas.2013080118","article-title":"Replication-independent instability of Friedreich's ataxia GAA repeats during chronological aging","volume":"118","author":"Neil","year":"2021","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B55","doi-asserted-by":"crossref","first-page":"4022","DOI":"10.1093\/nar\/gky143","article-title":"GAA*TTC repeat expansion in human cells is mediated by mismatch repair complex MutLgamma and depends upon the endonuclease domain in MLH3 isoform one","volume":"46","author":"Halabi","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B56","doi-asserted-by":"crossref","first-page":"29861","DOI":"10.1074\/jbc.M112.391961","article-title":"Role of mismatch repair enzymes in GAA\u00b7TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells","volume":"287","author":"Du","year":"2012","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B57","first-page":"225","article-title":"A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia","volume":"8","author":"Anjomani\u00a0Virmouni","year":"2015","journal-title":"Dis. Model. Mech."},{"key":"2023091309533613900_B58","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s00439-006-0249-3","article-title":"The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model","volume":"120","author":"Clark","year":"2007","journal-title":"Hum. Genet."},{"key":"2023091309533613900_B59","doi-asserted-by":"crossref","first-page":"3088","DOI":"10.1093\/hmg\/ddm270","article-title":"Expansions of CAG.CTG repeats in immortalized human astrocytes","volume":"16","author":"Claassen","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"2023091309533613900_B60","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/cr.2013.12","article-title":"Trinucleotide repeat expansions catalyzed by human cell-free extracts","volume":"23","author":"Stevens","year":"2013","journal-title":"Cell Res."},{"key":"2023091309533613900_B61","doi-asserted-by":"crossref","first-page":"4495","DOI":"10.1093\/nar\/gkl614","article-title":"CAG*CTG repeat instability in cultured human astrocytes","volume":"34","author":"Farrell","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B62","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/j.molcel.2017.11.022","article-title":"Replication fork reversal: players and guardians","volume":"68","author":"Quinet","year":"2017","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B63","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/0378-1119(86)90028-4","article-title":"Yeast shuttle and integrative vectors with multiple cloning sites suitable for construction of lacZ fusions","volume":"45","author":"Myers","year":"1986","journal-title":"Gene"},{"key":"2023091309533613900_B64","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1016\/j.celrep.2014.10.048","article-title":"Coupling transcriptional state to large-scale repeat expansions in yeast","volume":"9","author":"Shah","year":"2014","journal-title":"Cell Rep."},{"key":"2023091309533613900_B65","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1126\/science.1962210","article-title":"Sequence-selective recognition of DNA by strand displacement with a thymine-substituted polyamide","volume":"254","author":"Nielsen","year":"1991","journal-title":"Science"},{"key":"2023091309533613900_B66","first-page":"121","volume-title":"Molecular Genetics of Yeast","author":"Gietz","year":"1993"},{"key":"2023091309533613900_B67","doi-asserted-by":"crossref","first-page":"4975","DOI":"10.1002\/j.1460-2075.1993.tb06191.x","article-title":"Suicidal nucleotide sequences for DNA polymerization","volume":"12","author":"Samadashwily","year":"1993","journal-title":"EMBO J."},{"key":"2023091309533613900_B68","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1093\/nar\/25.7.1339","article-title":"Mechanisms of triplex-caused polymerization arrest","volume":"25","author":"Krasilnikov","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B69","doi-asserted-by":"crossref","first-page":"14588","DOI":"10.1074\/jbc.273.23.14588","article-title":"Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo","volume":"273","author":"Ohshima","year":"1998","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B70","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/978-1-4939-7306-4_29","article-title":"Quantitative analysis of the rates for repeat-mediated genome instability in a yeast experimental system","volume":"1672","author":"Radchenko","year":"2018","journal-title":"Methods Mol. Biol."},{"key":"2023091309533613900_B71","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.gde.2020.10.006","article-title":"Structure-forming repeats and their impact on genome stability","volume":"67","author":"Brown","year":"2020","journal-title":"Curr. Opin. Genet. Dev."},{"key":"2023091309533613900_B72","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1038\/nature05977","article-title":"Expandable DNA repeats and human disease","volume":"447","author":"Mirkin","year":"2007","journal-title":"Nature"},{"key":"2023091309533613900_B73","doi-asserted-by":"crossref","first-page":"142","DOI":"10.3109\/10409238.2014.999192","article-title":"Repeat instability during DNA repair: insights from model systems","volume":"50","author":"Usdin","year":"2015","journal-title":"Crit. Rev. Biochem. Mol. Biol."},{"key":"2023091309533613900_B74","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.jneumeth.2008.03.012","article-title":"Huntingtin triplet-repeat locus is stable under long-term Fen1 knockdown in human cells","volume":"171","author":"Moe","year":"2008","journal-title":"J. Neurosci. Methods"},{"key":"2023091309533613900_B75","doi-asserted-by":"crossref","first-page":"6063","DOI":"10.1128\/MCB.23.17.6063-6074.2003","article-title":"Nuclease-deficient FEN-1 blocks Rad51\/BRCA1-mediated repair and causes trinucleotide repeat instability","volume":"23","author":"Spiro","year":"2003","journal-title":"Mol. Cell. Biol."},{"key":"2023091309533613900_B76","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1128\/MCB.06727-11","article-title":"Altered replication in human cells promotes DMPK (CTG)(n) \u00b7 (CAG)(n) repeat instability","volume":"32","author":"Liu","year":"2012","journal-title":"Mol. Cell. Biol."},{"key":"2023091309533613900_B77","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1093\/nar\/gky1195","article-title":"Mrc1 and Tof1 prevent fragility and instability at long CAG repeats by their fork stabilizing function","volume":"47","author":"Gellon","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B78","doi-asserted-by":"crossref","first-page":"6371","DOI":"10.1093\/nar\/gkp666","article-title":"ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice","volume":"37","author":"Entezam","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B79","doi-asserted-by":"crossref","first-page":"5795","DOI":"10.1093\/nar\/gks270","article-title":"Homologous recombination and its regulation","volume":"40","author":"Krejci","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B80","doi-asserted-by":"crossref","first-page":"a016600","DOI":"10.1101\/cshperspect.a016600","article-title":"Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins","volume":"7","author":"Prakash","year":"2015","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"2023091309533613900_B81","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.gde.2021.08.005","article-title":"Homologous recombination within repetitive DNA","volume":"71","author":"Polleys","year":"2021","journal-title":"Curr. Opin. Genet. Dev."},{"key":"2023091309533613900_B82","doi-asserted-by":"crossref","first-page":"6049","DOI":"10.1073\/pnas.95.11.6049","article-title":"DNA annealing by RAD52 protein is stimulated by specific interaction with the complex of replication protein A and single-stranded DNA","volume":"95","author":"Sugiyama","year":"1998","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B83","doi-asserted-by":"crossref","first-page":"28194","DOI":"10.1074\/jbc.272.45.28194","article-title":"Function of yeast Rad52 protein as a mediator between replication protein A and the Rad51 recombinase","volume":"272","author":"Sung","year":"1997","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B84","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1073\/pnas.1010959107","article-title":"Rad52 inactivation is synthetically lethal with BRCA2 deficiency","volume":"108","author":"Feng","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B85","doi-asserted-by":"crossref","first-page":"a010397","DOI":"10.1101\/cshperspect.a010397","article-title":"Break-induced DNA replication","volume":"5","author":"Anand","year":"2013","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"2023091309533613900_B86","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.gde.2013.05.007","article-title":"Break-induced replication: functions and molecular mechanism","volume":"23","author":"Malkova","year":"2013","journal-title":"Curr. Opin. Genet. Dev."},{"key":"2023091309533613900_B87","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1038\/s41594-018-0094-9","article-title":"Mechanisms of genetic instability caused by (CGG)n repeats in an experimental mammalian system","volume":"25","author":"Kononenko","year":"2018","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023091309533613900_B88","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/nsmb.3334","article-title":"The role of break-induced replication in large-scale expansions of (CAG)n\/(CTG)n repeats","volume":"24","author":"Kim","year":"2017","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023091309533613900_B89","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1126\/science.1243211","article-title":"Break-induced replication repair of damaged forks induces genomic duplications in human cells","volume":"343","author":"Costantino","year":"2014","journal-title":"Science"},{"key":"2023091309533613900_B90","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1038\/s41467-019-09196-9","article-title":"Rad52 prevents excessive replication fork reversal and protects from nascent strand degradation","volume":"10","author":"Malacaria","year":"2019","journal-title":"Nat. Commun."},{"key":"2023091309533613900_B91","doi-asserted-by":"crossref","first-page":"12411","DOI":"10.1073\/pnas.0805685105","article-title":"Polyubiquitination of proliferating cell nuclear antigen by HLTF and SHPRH prevents genomic instability from stalled replication forks","volume":"105","author":"Motegi","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B92","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.molcel.2011.02.026","article-title":"SHPRH and HLTF act in a damage-specific manner to coordinate different forms of postreplication repair and prevent mutagenesis","volume":"42","author":"Lin","year":"2011","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B93","doi-asserted-by":"crossref","first-page":"2843","DOI":"10.1073\/pnas.1009409108","article-title":"Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast","volume":"108","author":"Cherng","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B94","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1016\/j.molcel.2020.04.031","article-title":"HLTF promotes fork reversal, limiting replication stress resistance and preventing multiple mechanisms of unrestrained DNA synthesis","volume":"78","author":"Bai","year":"2020","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B95","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/j.celrep.2014.01.034","article-title":"RTEL1 inhibits trinucleotide repeat expansions and fragility","volume":"6","author":"Frizzell","year":"2014","journal-title":"Cell Rep."},{"key":"2023091309533613900_B96","doi-asserted-by":"crossref","first-page":"2415","DOI":"10.1101\/gad.1832309","article-title":"The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart","volume":"23","author":"Ciccia","year":"2009","journal-title":"Genes Dev."},{"key":"2023091309533613900_B97","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1101\/gad.178459.111","article-title":"SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication","volume":"26","author":"Betous","year":"2012","journal-title":"Genes Dev."},{"key":"2023091309533613900_B98","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.molcel.2012.05.024","article-title":"Polyubiquitinated PCNA recruits the ZRANB3 translocase to maintain genomic integrity after replication stress","volume":"47","author":"Ciccia","year":"2012","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B99","doi-asserted-by":"crossref","first-page":"4110","DOI":"10.1074\/jbc.M114.627083","article-title":"High-affinity DNA-binding domains of replication protein A (RPA) direct SMARCAL1-dependent replication fork remodeling","volume":"290","author":"Bhat","year":"2015","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B100","doi-asserted-by":"crossref","first-page":"670392","DOI":"10.3389\/fcell.2021.670392","article-title":"Replication fork reversal and protection","volume":"9","author":"Qiu","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"2023091309533613900_B101","doi-asserted-by":"crossref","first-page":"2394","DOI":"10.1101\/gad.1836409","article-title":"The annealing helicase HARP protects stalled replication forks","volume":"23","author":"Yuan","year":"2009","journal-title":"Genes Dev."},{"key":"2023091309533613900_B102","first-page":"245","article-title":"SMARCAL1 and replication stress: an explanation for SIOD?","volume":"1","author":"Bansbach","year":"2010","journal-title":"Nucleus"},{"key":"2023091309533613900_B103","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.molcel.2017.06.023","article-title":"RADX promotes genome stability and modulates chemosensitivity by regulating RAD51 at replication forks","volume":"67","author":"Dungrawala","year":"2017","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B104","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nrm3935","article-title":"Replication fork reversal in eukaryotes: from dead end to dynamic response","volume":"16","author":"Neelsen","year":"2015","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2023091309533613900_B105","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.dnarep.2017.06.018","article-title":"Role of recombination and replication fork restart in repeat instability","volume":"56","author":"Polleys","year":"2017","journal-title":"DNA Repair (Amst.)"},{"key":"2023091309533613900_B106","doi-asserted-by":"crossref","first-page":"95","DOI":"10.3390\/genes10020095","article-title":"Replication of G quadruplex DNA","volume":"10","author":"Lerner","year":"2019","journal-title":"Genes"},{"key":"2023091309533613900_B107","doi-asserted-by":"crossref","first-page":"2308","DOI":"10.3390\/ijms22052308","article-title":"Role of the DDX11 DNA helicase in Warsaw breakage syndrome etiology","volume":"22","author":"Santos","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"2023091309533613900_B108","doi-asserted-by":"crossref","first-page":"e201900547","DOI":"10.26508\/lsa.201900547","article-title":"The iron-sulfur helicase DDX11 promotes the generation of single-stranded DNA for CHK1 activation","volume":"3","author":"Simon","year":"2020","journal-title":"Life Sci.Alliance"},{"key":"2023091309533613900_B109","doi-asserted-by":"crossref","first-page":"e2024258118","DOI":"10.1073\/pnas.2024258118","article-title":"DDX11 loss causes replication stress and pharmacologically exploitable DNA repair defects","volume":"118","author":"Jegadesan","year":"2021","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B110","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1093\/nar\/28.4.917","article-title":"Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase","volume":"28","author":"Hirota","year":"2000","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B111","doi-asserted-by":"crossref","first-page":"5174","DOI":"10.1074\/jbc.M114.634923","article-title":"A distinct triplex DNA unwinding activity of ChlR1 helicase","volume":"290","author":"Guo","year":"2015","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B112","doi-asserted-by":"crossref","first-page":"6868","DOI":"10.1128\/MCB.17.12.6868","article-title":"Role of schizosaccharomyces pombe RecQ homolog, recombination, and checkpoint genes in UV damage tolerance","volume":"17","author":"Murray","year":"1997","journal-title":"Mol. Cell. Biol."},{"key":"2023091309533613900_B113","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/0092-8674(95)90335-6","article-title":"Sgs1: a eukaryotic homolog of E. coli RecQ that interacts with topoisomerase II in vivo and is required for faithful chromosome segregation","volume":"81","author":"Watt","year":"1995","journal-title":"Cell"},{"key":"2023091309533613900_B114","doi-asserted-by":"crossref","first-page":"37795","DOI":"10.1074\/jbc.274.53.37795","article-title":"The Werner syndrome gene product co-purifies with the DNA replication complex and interacts with PCNA and topoisomerase I","volume":"274","author":"Lebel","year":"1999","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B115","doi-asserted-by":"crossref","first-page":"18341","DOI":"10.1074\/jbc.274.26.18341","article-title":"Functional and physical interaction between WRN helicase and human replication protein A","volume":"274","author":"Brosh","year":"1999","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B116","first-page":"8391","article-title":"The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: a potential eukaryotic reverse gyrase","volume":"14","author":"Gangloff","year":"1994","journal-title":"Mol. Cell. Biol."},{"key":"2023091309533613900_B117","doi-asserted-by":"crossref","first-page":"4603","DOI":"10.1073\/pnas.97.9.4603","article-title":"Functional interaction between the Werner Syndrome protein and DNA polymerase delta","volume":"97","author":"Kamath-Loeb","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B118","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nsmb.2501","article-title":"Human RECQ1 promotes restart of replication forks reversed by DNA topoisomerase I inhibition","volume":"20","author":"Berti","year":"2013","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023091309533613900_B119","doi-asserted-by":"crossref","first-page":"13483","DOI":"10.1021\/bi0266986","article-title":"The Werner syndrome helicase\/exonuclease (WRN) disrupts and degrades D-loops in vitro","volume":"41","author":"Orren","year":"2002","journal-title":"Biochemistry"},{"key":"2023091309533613900_B120","doi-asserted-by":"crossref","first-page":"2843","DOI":"10.1093\/nar\/29.13.2843","article-title":"The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases","volume":"29","author":"Mohaghegh","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B121","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1101\/gad.2003811","article-title":"BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair","volume":"25","author":"Nimonkar","year":"2011","journal-title":"Genes Dev."},{"key":"2023091309533613900_B122","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1053\/gast.2002.30296","article-title":"Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system","volume":"122","author":"Trojan","year":"2002","journal-title":"Gastroenterology"},{"key":"2023091309533613900_B123","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S0378-1119(98)00375-8","article-title":"A computer model for the analysis of DNA replication intermediates by two-dimensional agarose gel electrophoresis","volume":"217","author":"Viguera","year":"1998","journal-title":"Gene"},{"key":"2023091309533613900_B124","doi-asserted-by":"crossref","first-page":"3419","DOI":"10.1016\/j.celrep.2018.05.061","article-title":"Replication fork reversal during DNA interstrand crosslink repair requires CMG unloading","volume":"23","author":"Amunugama","year":"2018","journal-title":"Cell Rep."},{"key":"2023091309533613900_B125","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1002\/cbic.200400074","article-title":"Triple-helix directed cleavage of double-stranded DNA by benzoquinoquinoxaline-1,10-phenanthroline conjugates","volume":"5","author":"Zaid","year":"2004","journal-title":"ChemBioChem"},{"key":"2023091309533613900_B126","doi-asserted-by":"crossref","first-page":"2629","DOI":"10.1002\/cbic.200900263","article-title":"Structure-specific recognition of Friedreich's ataxia (GAA)n repeats by benzoquinoquinoxaline derivatives","volume":"10","author":"Bergquist","year":"2009","journal-title":"ChemBioChem"},{"key":"2023091309533613900_B127","doi-asserted-by":"crossref","first-page":"2637","DOI":"10.1073\/pnas.92.7.2637","article-title":"Kinetics and mechanism of polyamide (\u201cpeptide\u201d) nucleic acid binding to duplex DNA","volume":"92","author":"Demidov","year":"1995","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B128","doi-asserted-by":"crossref","first-page":"3591","DOI":"10.1073\/pnas.95.7.3591","article-title":"Rational design of a triple helix-specific intercalating ligand","volume":"95","author":"Escud\u00e9","year":"1998","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B129","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/S1074-5521(99)80124-0","article-title":"Design of a triple-helix-specific cleaving reagent","volume":"6","author":"Zain","year":"1999","journal-title":"Chem. Biol."},{"key":"2023091309533613900_B130","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.jmb.2005.03.044","article-title":"Benzoquinoquinoxaline derivatives stabilize and cleave H-DNA and repress transcription downstream of a triplex-forming sequence","volume":"351","author":"Amiri","year":"2005","journal-title":"J. Mol. Biol."},{"key":"2023091309533613900_B131","doi-asserted-by":"crossref","first-page":"e52","DOI":"10.1371\/journal.pgen.0030052","article-title":"CTG trinucleotide repeat \u201cbig jumps\u201d: large expansions, small mice","volume":"3","author":"Gomes-Pereira","year":"2007","journal-title":"PLos Genet."},{"key":"2023091309533613900_B132","doi-asserted-by":"crossref","first-page":"4286","DOI":"10.1073\/pnas.1417594112","article-title":"Human RECQ1 helicase-driven DNA unwinding, annealing, and branch migration: insights from DNA complex structures","volume":"112","author":"Pike","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2023091309533613900_B133","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1083\/jcb.200909105","article-title":"Continued primer synthesis at stalled replication forks contributes to checkpoint activation","volume":"189","author":"Van","year":"2010","journal-title":"J. Cell Biol."},{"key":"2023091309533613900_B134","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1080\/10409238.2017.1380597","article-title":"Functions of SMARCAL1, ZRANB3, and HLTF in maintaining genome stability","volume":"52","author":"Poole","year":"2017","journal-title":"Crit. Rev. Biochem. Mol. Biol."},{"key":"2023091309533613900_B135","doi-asserted-by":"crossref","first-page":"2879","DOI":"10.1093\/nar\/26.12.2879","article-title":"Characterization of Werner syndrome protein DNA helicase activity: directionality, substrate dependence and stimulation by replication protein A","volume":"26","author":"Shen","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B136","doi-asserted-by":"crossref","first-page":"2396","DOI":"10.1093\/nar\/28.12.2396","article-title":"Characterization of the human and mouse WRN 3'\u21925' exonuclease","volume":"28","author":"Huang","year":"2000","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B137","doi-asserted-by":"crossref","first-page":"2973","DOI":"10.1093\/nar\/25.15.2973","article-title":"DNA helicase activity in Werner's syndrome gene product synthesized in a baculovirus system","volume":"25","author":"Suzuki","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B138","doi-asserted-by":"crossref","first-page":"23397","DOI":"10.1074\/jbc.M414130200","article-title":"RecQ family members combine strand pairing and unwinding activities to catalyze strand exchange","volume":"280","author":"Machwe","year":"2005","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B139","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1038\/ng0997-100","article-title":"The Werner syndrome protein is a DNA helicase","volume":"17","author":"Gray","year":"1997","journal-title":"Nat. Genet."},{"key":"2023091309533613900_B140","doi-asserted-by":"crossref","first-page":"34139","DOI":"10.1074\/jbc.273.51.34139","article-title":"Werner syndrome protein. I. DNA helicase and dna exonuclease reside on the same polypeptide","volume":"273","author":"Shen","year":"1998","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B141","doi-asserted-by":"crossref","first-page":"2405","DOI":"10.1101\/gad.1839909","article-title":"The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks","volume":"23","author":"Bansbach","year":"2009","journal-title":"Genes Dev."},{"key":"2023091309533613900_B142","doi-asserted-by":"crossref","first-page":"103385","DOI":"10.1016\/j.dnarep.2022.103385","article-title":"Replication dependent and independent mechanisms of GAA repeat instability","volume":"118","author":"Masnovo","year":"2022","journal-title":"DNA Repair (Amst.)"},{"key":"2023091309533613900_B143","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1038\/333475a0","article-title":"Chemical probing of homopurine-homopyrimidine mirror repeats in supercoiled DNA","volume":"333","author":"Voloshin","year":"1988","journal-title":"Nature"},{"key":"2023091309533613900_B144","doi-asserted-by":"crossref","first-page":"2815","DOI":"10.1093\/nar\/28.14.2815","article-title":"The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner","volume":"28","author":"Grabczyk","year":"2000","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B145","doi-asserted-by":"crossref","first-page":"9899","DOI":"10.1093\/nar\/gkaa665","article-title":"Atypical structures of GAA\/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA\/DNA hybrids","volume":"48","author":"Zhang","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"2023091309533613900_B146","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.molcel.2015.07.004","article-title":"Reconsidering DNA polymerases at the replication fork in eukaryotes","volume":"59","author":"Stillman","year":"2015","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B147","doi-asserted-by":"crossref","first-page":"29980","DOI":"10.1074\/jbc.M505236200","article-title":"Saccharomyces cerevisiae DNA polymerase delta: high fidelity for base substitutions but lower fidelity for single- and multi-base deletions","volume":"280","author":"Fortune","year":"2005","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B148","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/0092-8674(90)90730-3","article-title":"Binding and unwinding\u2013how T antigen engages the SV40 origin of DNA replication","volume":"60","author":"Borowiec","year":"1990","journal-title":"Cell"},{"key":"2023091309533613900_B149","doi-asserted-by":"crossref","first-page":"13179","DOI":"10.1128\/JVI.02224-13","article-title":"Replication stress and mitotic dysfunction in cells expressing simian virus 40 large T antigen","volume":"87","author":"Hu","year":"2013","journal-title":"J. Virol."},{"key":"2023091309533613900_B150","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1083\/jcb.201406099","article-title":"Rad51-mediated replication fork reversal is a global response to genotoxic treatments in human cells","volume":"208","author":"Zellweger","year":"2015","journal-title":"J. Cell Biol."},{"key":"2023091309533613900_B151","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1038\/nsmb.1927","article-title":"Rad51 protects nascent DNA from Mre11-dependent degradation and promotes continuous DNA synthesis","volume":"17","author":"Hashimoto","year":"2010","journal-title":"Nat. Struct. Mol. Biol."},{"key":"2023091309533613900_B152","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1006\/geno.1998.5595","article-title":"Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes","volume":"54","author":"Kitao","year":"1998","journal-title":"Genomics"},{"key":"2023091309533613900_B153","doi-asserted-by":"crossref","first-page":"8484","DOI":"10.1074\/jbc.RA118.002905","article-title":"The HIRAN domain of helicase-like transcription factor positions the DNA translocase motor to drive efficient DNA fork regression","volume":"293","author":"Chavez","year":"2018","journal-title":"J. Biol. Chem."},{"key":"2023091309533613900_B154","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1016\/j.molcel.2015.05.013","article-title":"HLTF\u2019s ancient HIRAN domain binds 3' DNA ends to drive replication fork reversal","volume":"58","author":"Kile","year":"2015","journal-title":"Mol. Cell"},{"key":"2023091309533613900_B155","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1016\/S0047-6374(03)00164-7","article-title":"The N-terminal domain of the large subunit of human replication protein A binds to Werner syndrome protein and stimulates helicase activity","volume":"124","author":"Shen","year":"2003","journal-title":"Mech. Ageing Dev."},{"key":"2023091309533613900_B156","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1021\/acs.biochem.2c00027","article-title":"DNA sequence specificity reveals a role of the HLTF HIRAN domain in the recognition of trinucleotide repeats","volume":"61","author":"Dusek","year":"2022","journal-title":"Biochemistry"},{"key":"2023091309533613900_B157","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.stem.2010.09.014","article-title":"Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA\u22c5TTC triplet repeat instability","volume":"7","author":"Ku","year":"2010","journal-title":"Cell Stem Cell"},{"key":"2023091309533613900_B158","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.nbd.2012.01.002","article-title":"The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model","volume":"46","author":"Ezzatizadeh","year":"2012","journal-title":"Neurobiol. Dis."},{"key":"2023091309533613900_B159","doi-asserted-by":"crossref","first-page":"e47085","DOI":"10.1371\/journal.pone.0047085","article-title":"Pms2 suppresses large expansions of the (GAA.TTC)n sequence in neuronal tissues","volume":"7","author":"Bourn","year":"2012","journal-title":"PLoS One"},{"key":"2023091309533613900_B160","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/nchembio.416","article-title":"Replication-dependent instability at (CTG) x (CAG) repeat hairpins in human cells","volume":"6","author":"Liu","year":"2010","journal-title":"Nat. Chem. Biol."},{"key":"2023091309533613900_B161","doi-asserted-by":"crossref","first-page":"15378","DOI":"10.1074\/jbc.RA120.013495","article-title":"Replication stress at microsatellites causes DNA double-strand breaks and break-induced replication","volume":"295","author":"Gadgil","year":"2020","journal-title":"J. Biol. Chem."}],"container-title":["Nucleic Acids Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/nar\/article-pdf\/51\/16\/8532\/51539013\/gkad441.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/nar\/article-pdf\/51\/16\/8532\/51539013\/gkad441.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T05:54:48Z","timestamp":1694584488000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/nar\/article\/51\/16\/8532\/7175340"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,22]]},"references-count":161,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2023,5,22]]},"published-print":{"date-parts":[[2023,9,8]]}},"URL":"https:\/\/doi.org\/10.1093\/nar\/gkad441","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.07.04.498737","asserted-by":"object"}]},"ISSN":["0305-1048","1362-4962"],"issn-type":[{"value":"0305-1048","type":"print"},{"value":"1362-4962","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,9,8]]},"published":{"date-parts":[[2023,5,22]]}}}