{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T04:23:51Z","timestamp":1791087831097,"version":"4.1.0"},"reference-count":58,"publisher":"Life Science Alliance, LLC","issue":"8","license":[{"start":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Gouvernement du Canada | Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-152933"],"award-info":[{"award-number":["PJT-152933"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Gouvernement du Canada | Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["OGB-183998"],"award-info":[{"award-number":["OGB-183998"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["life-science-alliance.org"],"crossmark-restriction":true},"short-container-title":["Life Sci. Alliance"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:p>\n                    CHARGE syndrome is a neural crest-related disorder mainly caused by mutation of the chromatin remodeler-coding gene\n                    <jats:italic>CHD7<\/jats:italic>\n                    . Alternative causes include mutation of other chromatin and\/or splicing factors. One of these additional players is the poorly characterized FAM172A, which we previously found in a complex with CHD7 and the small RNA-binding protein AGO2 at the chromatin\u2013spliceosome interface. Focusing on the FAM172A\u2013AGO2 interplay, we now report that FAM172A is a direct binding partner of AGO2 and, as such, one of the long sought-after regulators of AGO2 nuclear import. We show that this FAM172A function mainly relies on its classical bipartite nuclear localization signal and associated canonical importin-\u03b1\/\u03b2 pathway, being enhanced by CK2-induced phosphorylation and abrogated by a CHARGE syndrome-associated missense mutation. Overall, this study thus strengthens the notion that noncanonical nuclear functions of AGO2 and associated regulatory mechanisms might be clinically relevant.\n                  <\/jats:p>","DOI":"10.26508\/lsa.202302133","type":"journal-article","created":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T11:41:04Z","timestamp":1684842064000},"page":"e202302133","update-policy":"https:\/\/doi.org\/10.26508\/lsa.crossmarkpolicy","source":"Crossref","is-referenced-by-count":12,"title":["The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import"],"prefix":"10.26508","volume":"6","author":[{"given":"Sephora","family":"Sallis","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Molecular Genetics of Development Laboratory, Department of Biological Sciences, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]},{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Centre d\u2019Excellence en Recherche sur les Maladies Orphelines \u2013 Fondation Courtois, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e9lix-Antoine","family":"B\u00e9rub\u00e9-Simard","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Molecular Genetics of Development Laboratory, Department of Biological Sciences, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Grondin","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Molecular Genetics of Development Laboratory, Department of Biological Sciences, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]},{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Centre d\u2019Excellence en Recherche sur les Maladies Orphelines \u2013 Fondation Courtois, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Leduc","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Molecular Genetics of Development Laboratory, Department of Biological Sciences, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]},{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Centre d\u2019Excellence en Recherche sur les Maladies Orphelines \u2013 Fondation Courtois, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatiha","family":"Azouz","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Molecular Genetics of Development Laboratory, Department of Biological Sciences, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]},{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Centre d\u2019Excellence en Recherche sur les Maladies Orphelines \u2013 Fondation Courtois, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"B\u00e9langer","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Molecular Genetics of Development Laboratory, Department of Biological Sciences, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3641-0776","authenticated-orcid":true,"given":"Nicolas","family":"Pilon","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Molecular Genetics of Development Laboratory, Department of Biological Sciences, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]},{"id":[{"id":"https:\/\/ror.org\/002rjbv21","id-type":"ROR","asserted-by":"publisher"}],"name":"Centre d\u2019Excellence en Recherche sur les Maladies Orphelines \u2013 Fondation Courtois, Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al","place":[", Montreal, Canada"]},{"name":"Department of Pediatrics, Universit\u00e9 de Montr\u00e9al, Montreal, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"12380","published-online":{"date-parts":[[2023,5,23]]},"reference":[{"key":"2023082309450782000_6.8.e202302133.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31584"},{"key":"2023082309450782000_6.8.e202302133.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2021.01.009"},{"key":"2023082309450782000_6.8.e202302133.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"2023082309450782000_6.8.e202302133.4","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1715378115"},{"key":"2023082309450782000_6.8.e202302133.5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.233"},{"key":"2023082309450782000_6.8.e202302133.6","doi-asserted-by":"publisher","DOI":"10.1080\/21675511.2016.1156287"},{"key":"2023082309450782000_6.8.e202302133.7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"2023082309450782000_6.8.e202302133.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-006-0107-6"},{"key":"2023082309450782000_6.8.e202302133.9","doi-asserted-by":"publisher","DOI":"10.1096\/fj.202100837RR"},{"key":"2023082309450782000_6.8.e202302133.10","doi-asserted-by":"publisher","DOI":"10.1080\/21541264.2018.1521213"},{"key":"2023082309450782000_6.8.e202302133.11","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2321"},{"key":"2023082309450782000_6.8.e202302133.12","doi-asserted-by":"publisher","DOI":"10.1126\/science.1102513"},{"key":"2023082309450782000_6.8.e202302133.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2021.11.005"},{"key":"2023082309450782000_6.8.e202302133.14","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2373"},{"key":"2023082309450782000_6.8.e202302133.15","doi-asserted-by":"publisher","DOI":"10.1002\/wrna.1264"},{"key":"2023082309450782000_6.8.e202302133.16","doi-asserted-by":"publisher","DOI":"10.1261\/rna.078707.121"},{"key":"2023082309450782000_6.8.e202302133.17","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1305"},{"key":"2023082309450782000_6.8.e202302133.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.jplph.2022.153632"},{"key":"2023082309450782000_6.8.e202302133.19","doi-asserted-by":"publisher","DOI":"10.1101\/gad.210708.112"},{"key":"2023082309450782000_6.8.e202302133.20","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-017-1321-0"},{"key":"2023082309450782000_6.8.e202302133.21","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn693"},{"key":"2023082309450782000_6.8.e202302133.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2014.07.004"},{"key":"2023082309450782000_6.8.e202302133.23","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2018.07.020"},{"key":"2023082309450782000_6.8.e202302133.24","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C115.695049"},{"key":"2023082309450782000_6.8.e202302133.25","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1721346115"},{"key":"2023082309450782000_6.8.e202302133.26","doi-asserted-by":"publisher","DOI":"10.1159\/000495490"},{"key":"2023082309450782000_6.8.e202302133.27","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2443"},{"key":"2023082309450782000_6.8.e202302133.28","doi-asserted-by":"publisher","DOI":"10.1261\/rna.034769.112"},{"key":"2023082309450782000_6.8.e202302133.29","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv705"},{"key":"2023082309450782000_6.8.e202302133.30","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.12.023"},{"key":"2023082309450782000_6.8.e202302133.31","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1217203110"},{"key":"2023082309450782000_6.8.e202302133.32","doi-asserted-by":"publisher","DOI":"10.2144\/000113943"},{"key":"2023082309450782000_6.8.e202302133.33","doi-asserted-by":"publisher","DOI":"10.1038\/s41580-021-00446-7"},{"key":"2023082309450782000_6.8.e202302133.34","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20120150"},{"key":"2023082309450782000_6.8.e202302133.35","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.27.17191"},{"key":"2023082309450782000_6.8.e202302133.36","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1521-1878(200006)22:6<532::AID-BIES6>3.0.CO;2-O"},{"key":"2023082309450782000_6.8.e202302133.37","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.35.22191"},{"key":"2023082309450782000_6.8.e202302133.38","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M700559-MCP200"},{"key":"2023082309450782000_6.8.e202302133.39","doi-asserted-by":"publisher","DOI":"10.1042\/bj20021469"},{"key":"2023082309450782000_6.8.e202302133.40","doi-asserted-by":"publisher","DOI":"10.1111\/ejn.12494"},{"key":"2023082309450782000_6.8.e202302133.41","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2016.10.001"},{"key":"2023082309450782000_6.8.e202302133.42","doi-asserted-by":"publisher","DOI":"10.1261\/rna.973808"},{"key":"2023082309450782000_6.8.e202302133.43","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2013.02.035"},{"key":"2023082309450782000_6.8.e202302133.44","doi-asserted-by":"publisher","DOI":"10.1038\/srep33905"},{"key":"2023082309450782000_6.8.e202302133.45","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2016.03.016"},{"key":"2023082309450782000_6.8.e202302133.46","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2012.10.025"},{"key":"2023082309450782000_6.8.e202302133.47","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M000312200"},{"key":"2023082309450782000_6.8.e202302133.48","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.081778"},{"key":"2023082309450782000_6.8.e202302133.49","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.183"},{"key":"2023082309450782000_6.8.e202302133.50","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(02)01394-5"},{"key":"2023082309450782000_6.8.e202302133.51","doi-asserted-by":"publisher","DOI":"10.1261\/rna.1229409"},{"key":"2023082309450782000_6.8.e202302133.52","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7007-9-5"},{"key":"2023082309450782000_6.8.e202302133.53","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-385120-8.00015-2"},{"key":"2023082309450782000_6.8.e202302133.54","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1318"},{"key":"2023082309450782000_6.8.e202302133.55","doi-asserted-by":"publisher","DOI":"10.1186\/1756-0500-3-294"},{"key":"2023082309450782000_6.8.e202302133.56","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M208911200"},{"key":"2023082309450782000_6.8.e202302133.57","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R115.651679"},{"key":"2023082309450782000_6.8.e202302133.58","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2013.01.010"}],"container-title":["Life Science Alliance"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.26508\/lsa.202302133","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T09:07:34Z","timestamp":1704877654000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.life-science-alliance.org\/lookup\/doi\/10.26508\/lsa.202302133"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,23]]},"references-count":58,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,5,23]]},"published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.26508\/lsa.202302133"],"URL":"https:\/\/doi.org\/10.26508\/lsa.202302133","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.03.04.482948","asserted-by":"object"}]},"ISSN":["2575-1077"],"issn-type":[{"value":"2575-1077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,23]]}}}