{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T03:37:08Z","timestamp":1778125028632,"version":"3.51.4"},"reference-count":38,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T00:00:00Z","timestamp":1610323200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["POR\u2010FESR 2014\u20102020 Progetto SATIN"],"award-info":[{"award-number":["POR\u2010FESR 2014\u20102020 Progetto SATIN"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["IG\u201014718"],"award-info":[{"award-number":["IG\u201014718"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["IG\u201020778"],"award-info":[{"award-number":["IG\u201020778"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["IG\u201021974"],"award-info":[{"award-number":["IG\u201021974"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal Cellular Physiology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Warsaw breakage syndrome (WABS), is caused by biallelic mutations of <jats:italic>DDX11<\/jats:italic>, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant. By investigating the pathogenic mechanism, we demonstrate the inability of the DDX11 p.Leu836Pro mutant to unwind forked DNA substrates, while retaining DNA binding activity. We observed the accumulation of patient\u2010derived cells at the G2\/M phase and increased chromosomal fragmentation after mitomycin C treatment. The phenotype partially overlaps with features of the Fanconi anemia cells, which shows not only genomic instability but also defective mitochondria. This prompted us to examine mitochondrial functionality in WABS cells and revealed an altered aerobic metabolism. This opens the door to the further elucidation of the molecular and cellular basis of an impaired mitochondrial phenotype and sheds light on this fundamental process in cell physiology and the pathogenesis of these diseases.<\/jats:p>","DOI":"10.1002\/jcp.30265","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T07:01:31Z","timestamp":1610694091000},"page":"5664-5675","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia"],"prefix":"10.1002","volume":"236","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7431-7543","authenticated-orcid":false,"given":"Roberta","family":"Bottega","sequence":"first","affiliation":[{"name":"Institute for Maternal and Child Health\u2014IRCCS Burlo Garofolo  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0803-1042","authenticated-orcid":false,"given":"Silvia","family":"Ravera","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine University of Genova  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa M. R.","family":"Napolitano","sequence":"additional","affiliation":[{"name":"Structural Biology Laboratory Elettra\u2010Sincrotrone Trieste  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana","family":"Chiappetta","sequence":"additional","affiliation":[{"name":"Istituto di Biochimica e Biologia Cellulare (IBBC) Consiglio Nazionale delle Ricerche (CNR)  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4442-7079","authenticated-orcid":false,"given":"Nicoletta","family":"Zini","sequence":"additional","affiliation":[{"name":"CNR\u2014National Research Council of Italy Institute of Molecular Genetics \u201cLuigi Luca Cavalli\u2010Sforza\u201d\u2014Unit of Bologna  Bologna Italy"},{"name":"IRCCS Istituto Ortopedico Rizzoli  Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Crescenzi","sequence":"additional","affiliation":[{"name":"Sezione di Ematologia ed Immunologia Clinica, Centro Ricerche Emato\u2010Oncologiche University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Arniani","sequence":"additional","affiliation":[{"name":"Sezione di Ematologia ed Immunologia Clinica, Centro Ricerche Emato\u2010Oncologiche University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5147-3164","authenticated-orcid":false,"given":"Michela","family":"Faleschini","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2014IRCCS Burlo Garofolo  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Cortone","sequence":"additional","affiliation":[{"name":"Structural Biology Laboratory Elettra\u2010Sincrotrone Trieste  Trieste Italy"},{"name":"International School for Advanced Studies (SISSA)  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1483-3612","authenticated-orcid":false,"given":"Flavio","family":"Faletra","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2014IRCCS Burlo Garofolo  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Medagli","sequence":"additional","affiliation":[{"name":"Structural Biology Laboratory Elettra\u2010Sincrotrone Trieste  Trieste Italy"},{"name":"Department of Chemical and Pharmaceutical Sciences University of Trieste  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"Sirchia","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2014IRCCS Burlo Garofolo  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Moretti","sequence":"additional","affiliation":[{"name":"Sezione di Ematologia ed Immunologia Clinica, Centro Ricerche Emato\u2010Oncologiche University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9002-8829","authenticated-orcid":false,"given":"Job","family":"de Lange","sequence":"additional","affiliation":[{"name":"Amsterdam UMC, Clinical Genetics, Section Oncogenetics Cancer Center Amsterdam  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5910-9260","authenticated-orcid":false,"given":"Enrico","family":"Cappelli","sequence":"additional","affiliation":[{"name":"UO Ematologia, IRCCS Istituto Giannina Gaslini, Genova, Italy  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1623-0148","authenticated-orcid":false,"given":"Cristina","family":"Mecucci","sequence":"additional","affiliation":[{"name":"Sezione di Ematologia ed Immunologia Clinica, Centro Ricerche Emato\u2010Oncologiche University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0612-7948","authenticated-orcid":false,"given":"Silvia","family":"Onesti","sequence":"additional","affiliation":[{"name":"Structural Biology Laboratory Elettra\u2010Sincrotrone Trieste  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4591-7571","authenticated-orcid":false,"given":"Francesca M.","family":"Pisani","sequence":"additional","affiliation":[{"name":"Istituto di Biochimica e Biologia Cellulare (IBBC) Consiglio Nazionale delle Ricerche (CNR)  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2407-2696","authenticated-orcid":false,"given":"Anna","family":"Savoia","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2014IRCCS Burlo Garofolo  Trieste Italy"},{"name":"Department of Medical Sciences University of Trieste  Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40482"},{"issue":"1","key":"e_1_2_10_3_1","first-page":"4","article-title":"Fanconi anemia and its diagnosis","volume":"668","author":"Auerbach A. D.","year":"2009","journal-title":"Mutation Research\/DNA Repair"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.02.001"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-015-1712-0"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-014-1569-4"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.496463"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.639"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.176131"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3560"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1112"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2013.06.024"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22226"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2017.03.008"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2013.07.008"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0104857"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007622"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38382"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2012.583"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.008"},{"key":"e_1_2_10_21_1","article-title":"Diagnostic overlap between fanconi anemia and the cohesinopathies: Roberts syndrome and Warsaw breakage syndrome","volume":"2010","author":"Lelij P.","year":"2010","journal-title":"Anemia"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.057984"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2019104185"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv472"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-418687-3.00018-5"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1515\/BC-2011-227"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.03262"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S186476"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes9110564"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61284"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep25441"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2013.06.006"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-18066-8"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.04.006"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv213"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.01.100"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2159"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.276022"}],"container-title":["Journal of Cellular Physiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcp.30265","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcp.30265","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcp.30265","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T10:55:07Z","timestamp":1693133707000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcp.30265"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,11]]},"references-count":38,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/jcp.30265"],"URL":"https:\/\/doi.org\/10.1002\/jcp.30265","archive":["Portico"],"relation":{},"ISSN":["0021-9541","1097-4652"],"issn-type":[{"value":"0021-9541","type":"print"},{"value":"1097-4652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,11]]},"assertion":[{"value":"2020-06-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}