https://m2.mtmt.hu/ hun 2026-05-02 17:56 JournalArticle 3010297 ADMIN_APPROVED true Megjegyzés-26698000 N1 Funding details: 087518/Z/08/Z, Wellcome Trust N1 Funding details: 14POST19890021, AHA, American Heart Association N1 Funding details: GM053396, NIH, National Institutes of Health N1 Funding details: GM077053, NIH, National Institutes of Health N1 Funding details: NS078560, NIH, National Institutes of Health N1 Funding details: OD018265, NIH, National Institutes of Health Megjegyzés-26786078 N1 Funding details: 087518/Z/08/Z, Wellcome Trust N1 Funding details: 14POST19890021, AHA, American Heart Association N1 Funding details: GM053396, NIH, National Institutes of Health N1 Funding details: GM077053, NIH, National Institutes of Health N1 Funding details: NS078560, NIH, National Institutes of Health N1 Funding details: OD018265, NIH, National Institutes of Health Megjegyzés-26819436 N1 Funding details: 087518/Z/08/Z, Wellcome Trust N1 Funding details: 14POST19890021, AHA, American Heart Association N1 Funding details: GM053396, NIH, National Institutes of Health N1 Funding details: GM077053, NIH, National Institutes of Health N1 Funding details: NS078560, NIH, National Institutes of Health N1 Funding details: OD018265, NIH, National Institutes of Health 0 2016-12-02T12:32:03.000+0000 false 3010297 2026-04-23T00:41:25.903+0000 2020-12-22T17:04:23.030+0000 2016-01-30T20:58:33.000+0000 true 10000590 Juhász Gábor /api/author/10000590 Author true 10000590 2026-01-21T18:10:44.750+0000 2026-04-17T14:08:59.196+0000 2019-05-17T07:21:18.468+0000 true 10019782 Csámer Iván /api/admin/10019782 Admin true 10019782 Admin 10067876 /api/admin/10067876 Ladányi Gusztáv true true Admin 10080085 /api/admin/10080085 Fölkerné Csernyik Rita true true 2024-10-17T16:48:31.101+0000 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Kim, M Mutation in Atg5 reduces autophagy and leads to ataxia with developmental delay. true true /api/journal/10031024 REVIEWED true false 10031024 false 10031024 true 2050-084X Journal FOREIGN 5 e12245 e12245 18 2016 Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (ATG) genes have been reported in human patients to date. We identified a homozygous missense mutation, changing a conserved amino acid, in ATG5 in two siblings with congenital ataxia, mental retardation, and developmental delay. The subjects' cells display a decrease in autophagy flux and defects in conjugation of ATG12 to ATG5. The homologous mutation in yeast demonstrates a 30-50% reduction of induced autophagy. Flies in which Atg5 is substituted with the mutant human ATG5 exhibit severe movement disorder, in contrast to flies expressing the wild-type human protein. 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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" >Kim M </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Sandford E </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Gatica D </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Qiu Y </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Liu X </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Zheng Y </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Schulman BA </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Xu J </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Semple I </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Ro SH </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Kim B </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Mavioglu RN </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Tolun A </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10052982"><a href="/gui2/?type=authors&mode=browse&sel=10052982" target="_blank">Jipa A (<span class="authorship-author-name">Jipa András</span> <span class="authorAux-mtmt"> sejtbiológia/genetika</span>) </a> </span> <span class="author-affil"><span title="MTA Szegedi Biológiai Kutatóközpont">MTA SZBK</span>/Genetikai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040075"><a href="/gui2/?type=authors&mode=browse&sel=10040075" target="_blank">Takats S (<span class="authorship-author-name">Takáts Szabolcs</span> <span class="authorAux-mtmt"> Molekuláris sejtbiológia/genetika</span>) </a> </span> <span class="author-affil"><span title="Eötvös Loránd Tudományegyetem">ELTE</span>/<span title="Természettudományi Kar">TTK</span>/<span title="Biológiai Intézet">Bio_I</span>/Anatómiai, Sejt- és Fejlődésbiológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040074"><a href="/gui2/?type=authors&mode=browse&sel=10040074" target="_blank">Karpati M (<span class="authorship-author-name">Kárpáti Manuéla</span> <span class="authorAux-mtmt"> molekuláris sejtbiológia</span>) </a> </span> <span class="author-affil"><span title="Eötvös Loránd Tudományegyetem">ELTE</span>/<span title="Természettudományi Kar">TTK</span>/<span title="Biológiai Intézet">Bio_I</span>/Anatómiai, Sejt- és Fejlődésbiológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Li JZ </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Yapici Z </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000590"><a href="/gui2/?type=authors&mode=browse&sel=10000590" target="_blank">Juhasz G (<span class="authorship-author-name">Juhász Gábor</span> <span class="authorAux-mtmt"> Sejtbiológia</span>) </a> </span> <span class="author-affil"><span title="MTA Szegedi Biológiai Kutatóközpont">MTA SZBK</span>/Genetikai Intézet; <span title="Eötvös Loránd Tudományegyetem">ELTE</span>/<span title="Természettudományi Kar">TTK</span>/<span title="Biológiai Intézet">Bio_I</span>/Anatómiai, Sejt- és Fejlődésbiológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Lee JH ✉ </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Klionsky DJ ✉ </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Burmeister M ✉ </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;3010297" target="_blank">Mutation in Atg5 reduces autophagy and leads to ataxia with developmental delay.</a></div> <div> <span class="journal-title">ELIFE</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2050-084X">2050-084X</a>)</span>: <span class="journal-volume">5</span> <span class="page"> Paper e12245. 18 p. </span> <span class="year">(2016)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> 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class="publication-sourceOfData">MEDLINE</span> </div> <div class="lastModified">Utolsó módosítás: 2020.12.22. 18:04 Szuper Admin (admin) </div> <div class="lockedBy">Központi kezelésű 2024.10.17. 18:48 Ladányi Gusztáv (MTMT API user, admin) Fölkerné Csernyik Rita (MTMT ellenőrzés admin5) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Megjegyzés-26698000 N1 Funding details: 087518/Z/08/Z, Wellcome Trust N1 Funding details: 14POST19890021, AHA, American Heart Association N1 Funding details: GM053396, NIH, National Institutes of Health N1 Funding details: GM077053, NIH, National Institutes of Health N1 Funding details: NS078560, NIH, National Institutes of Health N1 Funding details: OD018265, NIH, National Institutes of Health...</pre> </div></div>