{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T11:34:33Z","timestamp":1778326473082,"version":"3.51.4"},"reference-count":94,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,2,25]],"date-time":"2021-02-25T00:00:00Z","timestamp":1614211200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["Grant Agreement n. 859853"],"award-info":[{"award-number":["Grant Agreement n. 859853"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003852","name":"Regione Campania","doi-asserted-by":"publisher","award":["SATIN"],"award-info":[{"award-number":["SATIN"]}],"id":[{"id":"10.13039\/501100003852","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["Consorzio CNCCS (\u201cProgetto B - Ricerca di nuovi farmaci per malattie rare trascurate e della pov-ert\u00e0\u201d);"],"award-info":[{"award-number":["Consorzio CNCCS (\u201cProgetto B - Ricerca di nuovi farmaci per malattie rare trascurate e della pov-ert\u00e0\u201d);"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Warsaw breakage syndrome (WABS) is a genetic disorder characterized by sister chromatid cohesion defects, growth retardation, microcephaly, hearing loss and other variable clinical manifestations. WABS is due to biallelic mutations of the gene coding for the super-family 2 DNA helicase DDX11\/ChlR1, orthologous to the yeast chromosome loss protein 1 (Chl1). WABS is classified in the group of \u201ccohesinopathies\u201d, rare hereditary diseases that are caused by mutations in genes coding for subunits of the cohesin complex or protein factors having regulatory roles in the sister chromatid cohesion process. In fact, among the cohesion regulators, an important player is DDX11, which is believed to be important for the functional coupling of DNA synthesis and cohesion establishment at the replication forks. Here, we will review what is known about the molecular and cellular functions of human DDX11 and its role in WABS etiopathogenesis, even in light of recent findings on the role of cohesin and its regulator network in promoting chromatin loop formation and regulating chromatin spatial organization.<\/jats:p>","DOI":"10.3390\/ijms22052308","type":"journal-article","created":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T02:08:17Z","timestamp":1614305297000},"page":"2308","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3403-5397","authenticated-orcid":false,"given":"Diana","family":"Santos","sequence":"first","affiliation":[{"name":"Istituto di Biochimica e Biologia Cellulare, Consiglio Nazionale delle Ricerche, Via P. Castellino 111, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9496-8941","authenticated-orcid":false,"given":"Mohammad","family":"Mahtab","sequence":"additional","affiliation":[{"name":"Istituto di Biochimica e Biologia Cellulare, Consiglio Nazionale delle Ricerche, Via P. Castellino 111, 80131 Naples, Italy"},{"name":"Dipartimento di Scienze e Tecnologie Ambientali, Biologiche e Farmaceutiche, Universit\u00e0 degli Studi della Campania Luigi Vanvitelli, Via Vivaldi 43, 81100 Caserta, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5326-1085","authenticated-orcid":false,"given":"Ana","family":"Boavida","sequence":"additional","affiliation":[{"name":"Istituto di Biochimica e Biologia Cellulare, Consiglio Nazionale delle Ricerche, Via P. Castellino 111, 80131 Naples, 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, Consiglio Nazionale delle Ricerche, Via P. Castellino 111, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1006\/geno.1996.0113","article-title":"Localization of chi1-related helicase genes to human chromosome regions 12p11 and 12p13: Similarity between parts of these genes and conserved human telomeric-associated DNA","volume":"32","author":"Amann","year":"1996","journal-title":"Genomics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3823","DOI":"10.1074\/jbc.272.6.3823","article-title":"Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1","volume":"272","author":"Amann","year":"1997","journal-title":"J. Biol. 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