{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:12:44Z","timestamp":1787004764736,"version":"build-2736575974"},"reference-count":16,"publisher":"EDP Sciences","issue":"10","license":[{"start":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T00:00:00Z","timestamp":1602028800000},"content-version":"vor","delay-in-days":6,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>\n                    Les variants pathog\u00e8nes du g\u00e8ne\n                    <jats:italic>NDE1<\/jats:italic>\n                    sont responsables de microlissenc\u00e9phalies chez l\u2019homme et constituent le d\u00e9ficit de la neurogen\u00e8se le plus s\u00e9v\u00e8re d\u00e9crit \u00e0 ce jour. Le g\u00e8ne\n                    <jats:italic>NDE1<\/jats:italic>\n                    code une phosphoprot\u00e9ine essentielle \u00e0 la neurogen\u00e8se, qui est exprim\u00e9e dans diff\u00e9rents compartiments cellulaires des neuroblastes. Le m\u00e9canisme physiopathologique pr\u00e9cis de la microlissenc\u00e9phalie n\u2019est pas encore compl\u00e8tement \u00e9lucid\u00e9. Plus de 60 partenaires d\u2019interaction prot\u00e9ique avec NDE1 ont \u00e9t\u00e9 rapport\u00e9s, notamment des prot\u00e9ines impliqu\u00e9es dans la formation du fuseau mitotique, la ciliation, la protection du g\u00e9nome des neuroblastes en division ou encore l\u2019apoptose (la LIS1, la dyn\u00e9ine, la coh\u00e9sine) et constituent autant de pistes explor\u00e9es dans cette revue.\n                  <\/jats:p>","DOI":"10.1051\/medsci\/2020157","type":"journal-article","created":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T06:35:18Z","timestamp":1602052518000},"page":"866-871","source":"Crossref","is-referenced-by-count":2,"title":["Variations pathog\u00e8nes de\n                    <i>NDE1<\/i>\n                    et microlissenc\u00e9phalie"],"prefix":"10.1051","volume":"36","author":[{"given":"Sara","family":"Cabet","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Guibaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"250","published-online":{"date-parts":[[2020,10,7]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.ajhg.2011.04.003","volume":"88","author":"Alkuraya","year":"2011","journal-title":"Am J Hum Genet"},{"key":"R2","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.ajhg.2011.03.019","volume":"88","author":"Bakircioglu","year":"2011","journal-title":"Am J Hum Genet"},{"key":"R3","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1002\/ajmg.a.35969","volume":"161A","author":"Paciorkowski","year":"2013","journal-title":"Am J Med Genet"},{"key":"R4","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1136\/jmg.2007.055202","volume":"46","author":"Hannes","year":"2009","journal-title":"J Med Genet"},{"key":"R5","doi-asserted-by":"crossref","first-page":"12551","DOI":"10.1038\/ncomms12551","volume":"7","author":"Doobin","year":"2016","journal-title":"Nat Commun"},{"key":"R6","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1091\/mbc.E18-07-0418","volume":"29","author":"Monda","year":"2018","journal-title":"Mol Biol Cell"},{"key":"R7","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1051\/medsci\/20143011011","volume":"30","author":"Delgehyr","year":"2014","journal-title":"Med Sci (Paris)"},{"key":"R8","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/ncb2183","volume":"13","author":"Kim","year":"2011","journal-title":"Nat Cell Biol"},{"key":"R9","doi-asserted-by":"crossref","first-page":"2424","DOI":"10.15252\/embj.201490831","volume":"34","author":"Maskey","year":"2015","journal-title":"EMBO J"},{"key":"R10","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1083\/jcb.201502089","volume":"210","author":"Lambrus","year":"2015","journal-title":"J Cell Biol"},{"key":"R11","doi-asserted-by":"crossref","first-page":"e03297","DOI":"10.7554\/eLife.03297","volume":"3","author":"Houlihan","year":"2014","journal-title":"Elife"},{"key":"R12","doi-asserted-by":"crossref","unstructured":"Telley L, Agirman G, Prados J, et al. 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