{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:17Z","timestamp":1772160077084,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T00:00:00Z","timestamp":1700438400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001505","name":"Health Research Council of New Zealand","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001505","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A key signalling pathway required for clearance of viruses from host cells relies on the receptor protein, retinoic acid\u2010inducible gene I (\n                    <jats:italic>RIG\u2010I<\/jats:italic>\n                    ). The activity of\n                    <jats:italic>RIG\u2010I<\/jats:italic>\n                    is tightly controlled, and once bound to viral dsRNA, addition of lysine 63\u2010linked ubiquitin chains activates signalling. Meanwhile, the addition of lysine 48\u2010linked ubiquitin chains to RIG\u2010I is required to terminate signalling when the infection has been resolved. Really interesting new gene (\n                    <jats:italic>RING<\/jats:italic>\n                    ) finger protein 125 (RNF125) is the E3 ligase responsible for addition of the ubiquitin chains that terminate signalling, with disruption of its function associated with Tenorio syndrome. Here we describe a novel\n                    <jats:italic>RNF125<\/jats:italic>\n                    gene variant in an individual with clinical symptoms including intellectual disability, macrocephaly and congenital heart disease, consistent with Tenorio syndrome. The newly identified Tenorio syndrome\u2010associated variant [(NM_017831.4):c.670G&gt;C p.Glu224Gln] is the first to be found in the ubiquitin interaction motif (UIM) of RNF125. While the E3 ligase activity of this RNF125 variant is retained, it has an impaired ability to interact with lysine 63\u2010linked ubiquitin chains. The function of the UIM in RNF125 is uncertain; however, this study suggests that the UIM binds lysine 63\u2010linked ubiquitin chains, and that this interaction is required for the normal function of RNF125.\n                  <\/jats:p>","DOI":"10.1111\/cge.14457","type":"journal-article","created":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T18:00:30Z","timestamp":1700589630000},"page":"254-261","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel\n                    <i>RNF125<\/i>\n                    variant associated with Tenorio syndrome alters ubiquitin chain binding"],"prefix":"10.1111","volume":"105","author":[{"given":"Fareeda M.","family":"Barzak","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Biomedical Sciences University of Otago  Dunedin New 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