{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T07:43:07Z","timestamp":1773214987741,"version":"3.50.1"},"reference-count":32,"publisher":"Impact Journals, LLC","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Aging"],"published-print":{"date-parts":[[2021,2,28]]},"DOI":"10.18632\/aging.202680","type":"journal-article","created":{"date-parts":[[2021,2,22]],"date-time":"2021-02-22T22:47:54Z","timestamp":1614034074000},"page":"4926-4945","source":"Crossref","is-referenced-by-count":20,"title":["Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity"],"prefix":"10.18632","volume":"13","author":[{"given":"Michela","family":"Murdocca","sequence":"first","affiliation":[{"name":"Department of Biomedicine and Prevention, Tor Vergata University, Rome 00133, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Spitalieri","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Tor Vergata University, Rome 00133, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"De Masi","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Tor Vergata University, Rome 00133, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ion","family":"Udroiu","sequence":"additional","affiliation":[{"name":"Department of Science, \u201cRoma Tre\u201d University, Rome 00154, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Marinaccio","sequence":"additional","affiliation":[{"name":"Department of Science, \u201cRoma Tre\u201d University, Rome 00154, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Neurosciences, Istituto Superiore di Sanit\u00e0, Rome 00161, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Valentina","family":"Talarico","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Tor Vergata University, Rome 00133, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Paediatric Neurology and Neuromuscular Disorders, University of Genoa and Istituto Gaslini, Genoa 16147, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"D\u2019Adamo","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, Tor Vergata University, Rome 00133, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Sbraccia","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, Tor Vergata University, Rome 00133, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Rosaria","family":"D\u2019Apice","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Tor Vergata Hospital, Rome 00133, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Novelli","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Tor Vergata University, Rome 00133, Italy"},{"name":"Laboratory of Medical Genetics, Tor Vergata Hospital, Rome 00133, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Sgura","sequence":"additional","affiliation":[{"name":"Department of Science, \u201cRoma Tre\u201d University, Rome 00154, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Sangiuolo","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Tor Vergata University, Rome 00133, Italy"},{"name":"Laboratory of Medical Genetics, Tor Vergata Hospital, Rome 00133, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7892","published-online":{"date-parts":[[2021,2,22]]},"reference":[{"key":"1","doi-asserted-by":"publisher","first-page":"E192","DOI":"10.1210\/jc.2010-0419","article-title":"A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.","volume":"9","author":"Garg","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.arr.2017.12.001","article-title":"Mandibuloacral dysplasia: a premature ageing disease with aspects of physiological ageing.","volume":"4","author":"Lattanzi","year":"2018","journal-title":"Ageing Res Rev"},{"key":"3","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1111\/cen.13311","article-title":"Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.","volume":"8","author":"Tayeh","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"key":"4","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1006\/geno.1995.1169","article-title":"Structure of the gene for the catalytic subunit of human DNA polymerase delta (POLD1).","volume":"2","author":"Lee","year":"1995","journal-title":"Genomics"},{"key":"5","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1002\/em.21745","article-title":"DNA polymerase delta in DNA replication and genome maintenance.","volume":"5","author":"Loeb","year":"2012","journal-title":"Environ Mol Mutagen"},{"key":"6","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1038\/s41467-017-00694-2","article-title":"The catalytic subunit of DNA polymerase \u03b4 inhibits \u03b3TuRC activity and regulates Golgi-derived microtubules.","volume":"8","author":"Qi","year":"2017","journal-title":"Nat Commun"},{"key":"7","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/j.yexcr.2019.01.003","article-title":"The catalytic subunit of DNA polymerase \u03b4 is a nucleocytoplasmic shuttling protein.","volume":"37","author":"Qi","year":"2019","journal-title":"Exp Cell Res"},{"key":"8","first-page":"24027","article-title":"Regulation of human DNA polymerase delta during the cell cycle.","volume":"26","author":"Lee","year":"1994","journal-title":"J Biol Chem"},{"key":"9","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/s12858-015-0044-7","article-title":"Human POLD1 modulates cell cycle progression and DNA damage repair.","volume":"1","author":"Wang","year":"2015","journal-title":"BMC Biochem"},{"key":"10","doi-asserted-by":"publisher","first-page":"12480","DOI":"10.1074\/jbc.M111.332577","article-title":"The werner syndrome exonuclease facilitates DNA degradation and high fidelity DNA polymerization by human DNA polymerase \u03b4.","volume":"28","author":"Loeb","year":"2012","journal-title":"J Biol Chem"},{"key":"11","doi-asserted-by":"publisher","first-page":"5359","DOI":"10.1128\/MCB.02084-07","article-title":"Reduced levels of DNA polymerase delta induce chromosome fragile site instability in yeast.","volume":"2","author":"Petes","year":"2008","journal-title":"Mol Cell Biol"},{"key":"12","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1146\/annurev.genet.39.073003.113340","article-title":"Nonhomologous end joining in yeast.","volume":"3","author":"Wilson","year":"2005","journal-title":"Annu Rev Genet"},{"key":"13","doi-asserted-by":"publisher","first-page":"2672","DOI":"10.1002\/jcb.23211","article-title":"Coordination of DNA replication and recombination activities in the maintenance of genome stability.","volume":"11","author":"Morrical","year":"2011","journal-title":"J Cell Biochem"},{"key":"14","first-page":"1239","article-title":"Involvement of the yeast DNA polymerase delta in DNA repair","volume":"14","author":"Faye","year":"1997","journal-title":"Genetics"},{"key":"15","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1038\/nature20099","article-title":"Break-induced telomere synthesis underlies alternative telomere maintenance.","volume":"53","author":"Greenberg","year":"2016","journal-title":"Nature"},{"key":"16","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1007\/s11033-011-0731-4","article-title":"The effect of aging on the DNA damage and repair capacity in 2BS cells undergoing oxidative stress.","volume":"3","author":"Wang","year":"2012","journal-title":"Mol Biol Rep"},{"key":"17","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1242\/dmm.024711","article-title":"Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells.","volume":"9","author":"L\u00f3pez-Ot\u00edn","year":"2016","journal-title":"Dis Model Mech"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1089\/dna.2018.4335","article-title":"Characterization of MDPL fibroblasts carrying the recurrent p.Ser605del mutation in POLD1 gene.","author":"Novelli","year":"2018","journal-title":"DNA Cell Biol"},{"key":"19","doi-asserted-by":"publisher","first-page":"1751","DOI":"10.1016\/S0002-9440(10)63534-1","article-title":"Quantifying telomere lengths of human individual chromosome arms by centromere-calibrated fluorescencehybridization and digital imaging.","volume":"16","author":"M\u00f6ller","year":"2003","journal-title":"Am J Pathol"},{"key":"20","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1016\/j.metabol.2017.03.011","article-title":"Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).","volume":"7","author":"De Sandre-Giovannoli","year":"2017","journal-title":"Metabolism"},{"key":"21","doi-asserted-by":"publisher","first-page":"1530","DOI":"10.1016\/j.metabol.2015.07.022","article-title":"Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.","volume":"6","author":"Jones","year":"2015","journal-title":"Metabolism"},{"key":"22","doi-asserted-by":"publisher","first-page":"1385","DOI":"10.1016\/j.metabol.2014.07.010","article-title":"Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.","volume":"6","author":"Santini","year":"2014","journal-title":"Metabolism"},{"key":"23","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1038\/ng.2670","article-title":"An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.","volume":"4","author":"Goh","year":"2013","journal-title":"Nat Genet"},{"key":"24","doi-asserted-by":"publisher","first-page":"e27233","DOI":"10.1371\/journal.pone.0027233","article-title":"Generation of micronuclei during interphase by coupling between cytoplasmic membrane blebbing and nuclear budding.","volume":"6","author":"Shimizu","year":"2011","journal-title":"PLoS One"},{"key":"25","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/j.canlet.2012.01.007","article-title":"DNA damage-induced cell death: from specific DNA lesions to the DNA damage response and apoptosis.","volume":"33","author":"Kaina","year":"2013","journal-title":"Cancer Lett"},{"key":"26","doi-asserted-by":"publisher","first-page":"e478s","DOI":"10.6061\/clinics\/2018\/e478s","article-title":"DNA repair pathways and cisplatin resistance: an intimate relationship.","volume":"7","author":"Menck","year":"2018","journal-title":"Clinics (Sao Paulo)"},{"key":"27","doi-asserted-by":"publisher","first-page":"12625","DOI":"10.1093\/nar\/gkx1128","article-title":"Meta-analysis of DNA double-strand break response kinetics.","volume":"4","author":"Krawczyk","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"28","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.gene.2016.06.031","article-title":"POLD1: central mediator of DNA replication and repair, and implication in cancer and other pathologies.","volume":"59","author":"Arora","year":"2016","journal-title":"Gene"},{"key":"29","doi-asserted-by":"publisher","first-page":"12154","DOI":"10.1038\/ncomms12154","article-title":"Homologous recombination-dependent repair of telomeric DSBs in proliferating human cells.","volume":"7","author":"Zhao","year":"2016","journal-title":"Nat Commun"},{"key":"30","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/s0014-5793(02)02504-8","article-title":"Human fibroblastssenesce with a donor-specific telomere length.","volume":"51","author":"von Zglinicki","year":"2002","journal-title":"FEBS Lett"},{"key":"31","doi-asserted-by":"publisher","first-page":"1415","DOI":"10.3390\/cells9061415","article-title":"Emerin phosphorylation during the early phase of the oxidative stress response influences emerin-BAF interaction and BAF nuclear localization.","volume":"9","author":"Capanni","year":"2020","journal-title":"Cells"},{"key":"32","doi-asserted-by":"publisher","first-page":"4990","DOI":"10.1038\/s41467-019-13018-3","article-title":"Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson-Gilford progeria syndrome.","volume":"1","author":"d\u2019Adda di Fagagna","journal-title":"Nat Commun"}],"container-title":["Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.aging-us.com\/lookup\/doi\/10.18632\/aging.202680","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,6]],"date-time":"2021-04-06T16:15:49Z","timestamp":1617725749000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.aging-us.com\/lookup\/doi\/10.18632\/aging.202680"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,22]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,2,28]]}},"alternative-id":["202680","33618333"],"URL":"https:\/\/doi.org\/10.18632\/aging.202680","relation":{},"ISSN":["1945-4589"],"issn-type":[{"value":"1945-4589","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,22]]}}}