https://m2.mtmt.hu/ hun 2026-09-21 19:39 JournalArticle 3370208 VALIDATED true Boglárka Zámbó, Zsuzsa Bartos, László Homolya and Balázs Sarkadi contributed equally to this work. 0 2018-08-23T22:21:24.000+0000 false 3370208 2026-05-25T12:50:11.973+0000 2023-07-07T10:15:11.090+0000 2018-05-11T09:15:36.000+0000 true 10000283 Poór Gyula /api/author/10000283 Author Poór Gyula (Reumatológia, osteológia, molekuláris biológia) true 10000283 2026-03-03T11:44:40.650+0000 2026-03-03T11:44:40.650+0000 2021-02-22T10:12:52.135+0000 true 10062062 Gere Tamásné /api/admin/10062062 Admin Gere Tamásné (SE_KK_Admin5_GT, admin) true 10062062 2021-05-12T08:43:32.225+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin Csajbók Edit (SE_KK_Admin5_CSE, admin) true 10015544 Admin 10066925 /api/admin/10066925 Nemec Évi (MTMT Központi 3, admin) Nemec Évi true true Admin 10067876 /api/admin/10067876 Ladányi Gusztáv (MTMT API user, admin) Ladányi Gusztáv true true 2024-10-17T16:17:19.306+0000 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Zámbó, B true true /api/journal/10019966 REVIEWED SCIENTIFIC REPORTS 2045-2322 true false 10019966 false 10019966 true 2045-2322 Journal FOREIGN 8 1 7487 7487 13 2018 The ABCG2 membrane protein is a key xeno- and endobiotic transporter, modulating the absorption and metabolism of pharmacological agents and causing multidrug resistance in cancer. ABCG2 is also involved in uric acid elimination and its impaired function is causative in gout. Analysis of ABCG2 expression in the erythrocyte membranes of healthy volunteers and gout patients showed an enrichment of lower expression levels in the patients. By genetic screening based on protein expression, we found a relatively frequent, novel ABCG2 mutation (ABCG2-M71V), which, according to cellular expression studies, causes reduced protein expression, although with preserved transporter capability. Molecular dynamics simulations indicated a stumbled dynamics of the mutant protein, while ABCG2-M71V expression in vitro could be corrected by therapeutically relevant small molecules. These results suggest that personalized medicine should consider this newly discovered ABCG2 mutation, and genetic analysis linked to protein expression provides a new tool to uncover clinically important mutations in membrane proteins. © 2018 The Author(s). Funding 2000367 /api/funding/2000367 Az orvos-, egészségtudományi- és gyógyszerészképzés tudományos műhelyeinek fejlesztése(EFOP-3.6.3-VEKOP-16-2017-00009) Támogató: EFOP-VEKOP false true Funding 2028808 /api/funding/2028808 (FIEK_16-1-2016-0005) false true 2018 true true true false true false GOLD 2026-05-25 true https://doi.org/10.1038/s41598-018-25695-z 25 0 25 15 10 24 23 23 24 25 25 15 15 15 10 0 25 15 25 15 0 18 18 Folyóiratcikk Journal Article 24 24 Könyvrészlet Chapter in Book 25 1 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 2018 0 1 1 1 1 2019 0 3 2 3 2 2020 0 5 3 5 3 2021 0 7 3 7 3 2022 0 3 2 3 2 2023 0 3 2 3 2 2024 0 1 1 1 1 2025 0 2 1 2 1 D1 A nemzetközi false 10073889,10040526 false false false 2019-01-31T22:59:00.000+0000 2018-05-11T09:19:35.000+0000 Biofizikai és Sugárbiológiai Intézet (SE / AOK / I); 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(2018) SCIENTIFIC REPORTS 2045-2322 8 1<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" mtid="10053932"><a href="/gui2/?type=authors&mode=browse&sel=10053932" target="_blank">Zámbó B (<span class="authorship-author-name">Zámbó Boglárka</span> <span class="authorAux-mtmt"> molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="MTA Természettudományi Kutatóközpont">MTA TTK</span>/Enzimológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10054127"><a href="/gui2/?type=authors&mode=browse&sel=10054127" target="_blank">Bartos Z^* (<span class="authorship-author-name">Bartos Zsuzsa</span> <span class="authorAux-mtmt"> molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="MTA Természettudományi Kutatóközpont">MTA TTK</span>/Enzimológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10073889"><a href="/gui2/?type=authors&mode=browse&sel=10073889" target="_blank">Mózner O (<span class="authorship-author-name">Mózner Orsolya</span> <span class="authorAux-mtmt"> biomembrán</span>) </a> </span> <span class="author-affil"><span title="MTA Természettudományi Kutatóközpont">MTA TTK</span>/Enzimológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040526"><a href="/gui2/?type=authors&mode=browse&sel=10040526" target="_blank">Szabó E (<span class="authorship-author-name">Szabó Edit Zsuzsanna</span> <span class="authorAux-mtmt"> biológus</span>) </a> </span> <span class="author-affil"><span title="MTA Természettudományi Kutatóközpont">MTA TTK</span>/Enzimológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10015754"><a href="/gui2/?type=authors&mode=browse&sel=10015754" target="_blank">Várady G (<span class="authorship-author-name">Várady György</span> <span class="authorAux-mtmt"> Membránbiológia</span>) </a> </span> <span class="author-affil"><span title="MTA Természettudományi Kutatóközpont">MTA TTK</span>/Enzimológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000283"><a href="/gui2/?type=authors&mode=browse&sel=10000283" target="_blank">Poór G (<span class="authorship-author-name">Poór Gyula</span> <span class="authorAux-mtmt"> Reumatológia, osteológia, molekuláris biológia</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10084525"><a href="/gui2/?type=authors&mode=browse&sel=10084525" target="_blank">Pálinkás M (<span class="authorship-author-name">Pálinkás Márton</span> <span class="authorAux-mtmt"> Reumatológia, molekuláris biológia</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10036963"><a href="/gui2/?type=authors&mode=browse&sel=10036963" target="_blank">Andrikovics H (<span class="authorship-author-name">Andrikovics Hajnalka</span> <span class="authorAux-mtmt"> orvostudomány</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Transzfúziológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10015687"><a href="/gui2/?type=authors&mode=browse&sel=10015687" target="_blank">Hegedűs T (<span class="authorship-author-name">Hegedűs Tamás</span> <span class="authorAux-mtmt"> bioinformatika, biofizika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Biofizikai és Sugárbiológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10010446"><a href="/gui2/?type=authors&mode=browse&sel=10010446" target="_blank">Homolya L^** (<span class="authorship-author-name">Homolya László</span> <span class="authorAux-mtmt"> Molekuláris sejtbiológia</span>) </a> </span> <span class="author-affil"><span title="MTA Természettudományi Kutatóközpont">MTA TTK</span>/Enzimológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="1241938"><a href="/gui2/?type=authors&mode=browse&sel=1241938" target="_blank">Sarkadi B ✉ (<span class="authorship-author-name">Sarkadi Balázs</span> <span class="authorAux-mtmt"> biofizika</span>) </a> </span> <span class="author-affil"><span title="MTA Természettudományi Kutatóközpont">MTA TTK</span>/Enzimológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Biofizikai és Sugárbiológiai Intézet</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;3370208" target="_blank">Clinically relevant mutations in the ABCG2 transporter uncovered by genetic analysis linked to erythrocyte membrane protein expression</a></div> <div> <span class="journal-title">SCIENTIFIC REPORTS</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2045-2322">2045-2322</a>)</span>: <span class="journal-volume">8</span> <span class="journal-issue">1</span> <span class="page"> Paper 7487. 13 p. </span> <span class="year">(2018)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1038/s41598-018-25695-z" target="_blank" href="https://doi.org/10.1038/s41598-018-25695-z"> DOI </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="6003" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/6003"> SE Repozitórium </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000431763700020" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000431763700020"> WoS </a> </span> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:black" title="91789" target="_blank" href="http://real.mtak.hu/91789"> REAL </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85046959544" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85046959544"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="29749379" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=29749379&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="PMC5945641" target="_blank" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945641"> Pubmed Central </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Multidisciplinary&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Szociológiai Tudományos Bizottság IXGJO SZTB [1901-]&nbsp;&nbsp;&nbsp;A nemzetközi</div> <div class="journal-subject">Regionális Tudományok Bizottsága IXGJO RTB [1901-]&nbsp;&nbsp;&nbsp;B nemzetközi</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 25</span> | Független: 15 | Függő: 10 | Nem jelölt: 0 | WoS jelölt: 23 | Scopus jelölt:&nbsp;24 | WoS/Scopus jelölt:&nbsp;25 | DOI jelölt:&nbsp;23 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;3370208&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 18 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 3370208</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> <span class="oldId">Régi azonosító: 3370208</span> | Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> Az orvos-, egészségtudományi- és gyógyszerészképzés tudományos műhelyeinek fejlesztése(EFOP-3.6.3-VEKOP-16-2017-00009) Támogató: EFOP-VEKOP, (FIEK_16-1-2016-0005) </div> <div class="lastModified">Utolsó módosítás: 2023.07.07. 12:15 Vándor Andrea (VA, admin) </div> <div class="lockedBy">Központi kezelésű 2024.10.17. 18:17 Nemec Évi (MTMT Központi 3, admin) Ladányi Gusztáv (MTMT API user, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Boglárka Zámbó, Zsuzsa Bartos, László Homolya and Balázs Sarkadi contributed equally to this work.</pre> </div></div>