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R\u00e9cemment, une corr\u00e9lation entre des variants pathog\u00e8nes de g\u00e8nes codant le prot\u00e9asome et l\u2019\u00e9mergence de nouvelles maladies avec troubles neurod\u00e9veloppementaux, d\u00e9nomm\u00e9s \u00ab\u00a0prot\u00e9asomopathies neurod\u00e9veloppementales\u00a0\u00bb, a \u00e9t\u00e9 mise en \u00e9vidence. Ces maladies rares se manifestent par des retards psychomoteurs, des troubles du comportement, des dysmorphies faciales et des anomalies multi-syst\u00e9miques. Dans cette synth\u00e8se, nous r\u00e9pertorions les biomarqueurs sp\u00e9cifiques d\u2019une dysfonction prot\u00e9asomale et nous discutons de leur pertinence pour le diagnostic et les traitements de ces troubles neurod\u00e9veloppementaux.<\/jats:p>","DOI":"10.1051\/medsci\/2023221","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T09:16:25Z","timestamp":1709025385000},"page":"176-185","source":"Crossref","is-referenced-by-count":0,"title":["Prot\u00e9asomopathies neurod\u00e9veloppementales\u00a0: une nouvelle classe de maladies du neurod\u00e9veloppement caus\u00e9es par une dysfonction du prot\u00e9asome"],"prefix":"10.1051","volume":"40","author":[{"given":"Silvestre","family":"Cuinat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phane","family":"B\u00e9zieau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wallid","family":"Deb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6627-8748","authenticated-orcid":false,"given":"Sandra","family":"Mercier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginie","family":"Vignard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9r\u00e9nice","family":"Toutain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-0465","authenticated-orcid":false,"given":"S\u00e9bastien","family":"K\u00fcry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Ebstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2024,2,27]]},"reference":[{"issue":"1","key":"R1","first-page":"100","volume":"81","author":"Ciehanover","year":"1978","journal-title":"Biochem Biophys Res Commun"},{"key":"R2","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1146\/annurev-biochem-062917-011931","volume":"87","author":"Bard","year":"2018","journal-title":"Annu Rev Biochem"},{"key":"R3","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.ajhg.2010.10.031","volume":"87","author":"Agarwal","year":"2010","journal-title":"Am J Hum Genet"},{"key":"R4","doi-asserted-by":"crossref","first-page":"2756","DOI":"10.3389\/fimmu.2019.02756","volume":"10","author":"Ebstein","year":"2019","journal-title":"Front Immunol"},{"key":"R5","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ajhg.2017.01.003","volume":"100","author":"K\u00fcry","year":"2017","journal-title":"Am J Hum Genet"},{"key":"R6","doi-asserted-by":"crossref","first-page":"eabo3189","DOI":"10.1126\/scitranslmed.abo3189","volume":"15","author":"Ebstein","year":"2023","journal-title":"Sci Transl Med"},{"key":"R7","doi-asserted-by":"crossref","first-page":"e11861","DOI":"10.15252\/emmm.201911861","volume":"12","author":"Kr\u00f6ll-Hermi","year":"2020","journal-title":"EMBO Mol Med"},{"key":"R8","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1093\/hmg\/ddaa032","volume":"29","author":"Ansar","year":"2021","journal-title":"Hum Mol Genet"},{"key":"R9","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1111\/cge.14195","volume":"102","author":"Aharoni","year":"2022","journal-title":"Clin Genet"},{"key":"R10","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1002\/ajmg.a.62117","volume":"185","author":"Eno","year":"2021","journal-title":"Am J Med Genet A"},{"key":"R11","doi-asserted-by":"crossref","first-page":"4196","DOI":"10.1172\/JCI81260","volume":"125","author":"Brehm","year":"2015","journal-title":"J Clin Invest"},{"key":"R12","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/j.ajhg.2018.04.010","volume":"102","author":"Poli","year":"2018","journal-title":"Am J Hum Genet"},{"key":"R13","doi-asserted-by":"crossref","unstructured":"Ebstein F, K\u00fcry S, Most V, et al. 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