https://m2.mtmt.hu/ eng 2026-10-24 05:10 JournalArticle 32856344 APPROVED true 0 false 2026-10-22T12:07:09.242+0000 2025-02-26T12:03:16.237+0000 2022-06-01T12:35:51.683+0000 true 10065463 Turek Márta /api/admin/10065463 Admin Márta Turek (KOKI admin 4) true 2026-09-03T09:07:38.333+0000 2026-09-03T09:07:38.333+0000 true false true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Article (Journal Article) 101 true 10000059 true 1 /api/category/1 Category Scientific true 1 George, Arlene J. true true /api/journal/10088725 REVIEWED ISCIENCE 2589-0042 true false 10088725 false 10088725 true 2589-0042 Journal FOREIGN 25 6 104386 104386 2022 Recessive mutations in RNF216/TRIAD3 cause Gordon Holmes syndrome (GHS), in which dysfunction of the hypothalamic-pituitary-gonadal (HPG) axis and neuro-degeneration are thought to be core phenotypes. We knocked out Rnf216/Triad3 in a gonadotropin-releasing hormone (GnRH) hypothalamic cell line. Rnf216/Triad3 knockout (KO) cells had decreased steady-state GnRH and calcium transients. Rnf216/Triad3 KO adult mice had reductions in GnRH neuron soma size and GnRH production without changes in neuron densities. In addition, KO male mice had smaller testicular volumes that were accompanied by an abnormal release of inhibin B and follicle-stimulating hormone, whereas KO females exhibited irregular estrous cycling. KO males, but not females, had reactive microglia in the hypothalamus. Conditional deletion of Rnf216/Triad3 in neural stem cells caused abnormal microglia expression in males, but reproductive function remained unaffected. Our findings show that dysfunction of RNF216/TRIAD3 affects the HPG axis and microglia in a region- and sex-dependent manner, implicating sex-specific therapeutic interventions for GHS. Funding 2025888 /api/funding/2025888 National Ataxia Foundation Young Investigator Research Grant, the Cleon C. Arrington Research Ini...(RIG-93) false true Funding 2025889 /api/funding/2025889 Hungarian Brain Research Program(2017-1.2.1-NKP-2017-00002) false true Funding 2025890 /api/funding/2025890 National Science Foundation of Hungary(K128317) false true Funding 2025891 /api/funding/2025891 NIGMS(R01GM115763) false true Funding 2025892 /api/funding/2025892 NINDS(R21NS116760) false true Funding 2025893 /api/funding/2025893 NIDA(R01DA041529) false true true true 2022 true true true false true false GOLD 2026-10-22 true https://doi.org/10.1016/j.isci.2022.104386 13 0 13 10 0 13 13 12 9 13 13 10 10 10 3 0 13 10 13 10 0 1 1 Folyóiratcikk Journal Article 24 13 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2022 0 2 0 2 0 2023 0 3 3 3 3 2024 0 3 2 3 2 2025 0 3 3 3 3 2026 0 2 2 2 2 D1 false false false false 2022-08-30T12:36:02.654+0000 Kísérleti Orvostudományi Kutatóintézet; 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Institute of Experimental Medicine 9 0.091 false false false Author 10011472 /api/author/10011472 Erik Hrabovszky (Reproduktív endokrinológia) Hrabovszky Erik true 10011472 true Hrabovszky Erik true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 101897387 /api/authorship/101897387 Wanders, Desiree 10 0.09090909 false false false Wanders Desiree true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 101897388 /api/authorship/101897388 Mabb, Angela M. ✉ 11 0.091 false true true Mabb Angela M. true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PublicationIdentifier 21075344 /api/publicationidentifier/21075344 DOI: 10.1016/j.isci.2022.104386 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.1016/j.isci.2022.104386 https://doi.org/10.1016/j.isci.2022.104386 false true PublicationIdentifier 21075389 /api/publicationidentifier/21075389 REAL: 143249 SwordSource 36 /api/publicationsource/36 REAL PublicationSourceType 10007 /api/publicationsourcetype/10007 Repozitórium true true true REAL REAL https://real.mtak.hu/@@@ true true 36 true GOLD true IDENTICAL 143249 https://real.mtak.hu/143249 false true PublicationIdentifier 22088175 /api/publicationidentifier/22088175 WoS: 000809496800001 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000809496800001 https://www.webofscience.com/wos/woscc/full-record/000809496800001 false true PublicationIdentifier 22088176 /api/publicationidentifier/22088176 Scopus: 85130443706 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85130443706 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85130443706 false true PublicationIdentifier 21075345 /api/publicationidentifier/21075345 Egyéb URL: https://linkinghub.elsevier.com/retrieve/pii/S2589004222006575 PlainSource 40 /api/publicationsource/40 Other URL PublicationSourceType 10006 /api/publicationsourcetype/10006 Link true true true Egyéb URL Other URL @@@ true true 40 true IDENTICAL https://linkinghub.elsevier.com/retrieve/pii/S2589004222006575 https://linkinghub.elsevier.com/retrieve/pii/S2589004222006575 false true SjrRating 11272463 /api/sjrrating/11272463 sjr:D1 (2022) Scopus - Multidisciplinary ISCIENCE 2589-0042 10 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 1000 /api/classificationexternal/1000 Scopus - Multidisciplinary true 1000 true D1 DIRECT true true Reference 31179966 /api/reference/31179966 1. 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The E3 ubiquitin ligase RNF216/TRIAD3 is a key coordinator of the hypothalamic-pituitary-gonadal axis. (2022) ISCIENCE 2589-0042 25 6<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >George Arlene J. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Dong Bin </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Lail Hannah </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Gomez Morgan </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Hoffiz Yarely C. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Ware Christopher B. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Fang Ning </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Murphy Anne Z. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10011472"><a href="/gui2/?type=authors&mode=browse&sel=10011472" target="_blank">Hrabovszky Erik (<span class="authorship-author-name">Hrabovszky Erik</span> <span class="authorAux-mtmt"> Reproduktív endokrinológia</span>) </a> </span> <span class="author-affil"><span title="Institute of Experimental Medicine">IEM</span>/Laboratory of Reproductive Neurobiology; Institute of Experimental Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Wanders Desiree </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Mabb Angela M. ✉ </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;32856344" target="_blank">The E3 ubiquitin ligase RNF216/TRIAD3 is a key coordinator of the hypothalamic-pituitary-gonadal axis</a></div> <div> <span class="journal-title">ISCIENCE</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2589-0042">2589-0042</a>)</span>: <span class="journal-volume">25</span> <span class="journal-issue">6</span> <span class="page"> Paper 104386. </span> <span class="year">(2022)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1016/j.isci.2022.104386" target="_blank" href="https://doi.org/10.1016/j.isci.2022.104386"> DOI </a> </span> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="143249" target="_blank" href="https://real.mtak.hu/143249"> REAL </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000809496800001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000809496800001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85130443706" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85130443706"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="https://linkinghub.elsevier.com/retrieve/pii/S2589004222006575" target="_blank" href="https://linkinghub.elsevier.com/retrieve/pii/S2589004222006575"> Other URL </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Multidisciplinary&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 13</span> | Independent citation: 10 | Self citation: 3 | Unknown citation: 0 | Number of citations in WoS: 12 | Number of citations in Scopus:&nbsp;9 | WoS/Scopus assigned:&nbsp;13 | Number of citations with DOI:&nbsp;13 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;32856344&sort=publishedYear,desc&sort=title"> Number of cited publications: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 32856344</span> | <span class="status-data status-APPROVED"> Published </span> Core Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> National Ataxia Foundation Young Investigator Research Grant, the Cleon C. Arrington Research Ini...(RIG-93), Hungarian National Brain Research Program(2017-1.2.1-NKP-2017-00002), National Science Foundation of Hungary(K128317), NIGMS(R01GM115763), NINDS(R21NS116760), NIDA(R01DA041529) </div> <div class="lastModified">Last Modified: 2025.02.26. 13:03 Gusztáv Ladányi (MTMT API user, admin) </div> </div></div>