https://m2.mtmt.hu/ hun 2026-09-21 20:51 JournalArticle 32679249 APPROVED true These authors have contributed equally to this work and share first authorship: Laura Szalai, András Sziráki These authors have contributed equally to this work and share last authorship: László Hunyady, András Balla 0 false 2026-07-17T12:04:36.570+0000 2025-02-25T23:31:46.971+0000 2022-02-16T13:21:05.879+0000 true 10001377 Balla András /api/author/10001377 Author Balla András (Élettan és biokémia) true 10001377 2026-07-17T11:59:16.079+0000 Admin 10025544 /api/admin/10025544 Lévayné Deseő Katalin (MTMT Központi admin) Lévayné Deseő Katalin true 10025544 true 2023-04-13T18:32:17.474+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 Szalai, Laura true true /api/journal/10026753 REVIEWED FRONTIERS IN PHARMACOLOGY 1663-9812 true false 10026753 false 10026753 true 1663-9812 Journal FOREIGN 13 811836 811836 13 2022 The urine concentrating function of the kidney is essential to maintain the water homeostasis of the human body. It is mainly regulated by the arginine-vasopressin (AVP), which targets the type 2 vasopressin receptor (V2R) in the kidney. The inability of V2R to respond to AVP stimulation leads to decreased urine concentration and congenital nephrogenic diabetes insipidus (NDI). NDI is characterized by polyuria, polydipsia, and hyposthenuria. In this study, we identified a point mutation (S127F) in the <jats:italic>AVPR2</jats:italic> gene of an NDI patient, and we characterized the impaired function of the V2R mutant in HEK293 cells. Based on our data, the S127F-V2R mutant is almost exclusively located intracellularly in the endoplasmic reticulum (ER), and very few receptors were detected at the cell surface, where the receptor can bind to AVP. The overexpressed S127F-V2R mutant receptor has negligible cAMP generation capability compared to the wild-type receptor in response to AVP stimulation. Since certain misfolded mutant proteins, that are retained in the ER, can be rescued by pharmacological chaperones, we examined the potential rescue effects of two pharmacochaperones on the S127F-V2R. We found that pretreatment with both tolvaptan (an established V2R inverse agonist) and MCF14 compound (a cell-permeable high-affinity agonist for the V2R) were capable of partially restoring the cAMP generating function of the receptor in response to vasopressin stimulation. According to our data, both cell permeant agonists and antagonists can function as pharmacochaperones, and serve as the starting compounds to develop medicines for patients carrying the S127F mutation. Funding 2010764 /api/funding/2010764 (K116954) Támogató: Hungarian National Research, Development and Innovation Office false true Funding 2010765 /api/funding/2010765 (K139231) false true Funding 2010766 /api/funding/2010766 ((NKFIH) [VEKOP-2.3.2-16-2016-00002) Támogató: NKFIH false true Funding 2010767 /api/funding/2010767 NKFIH(NVKP_16-1-2016-0039) false true true true 2022 true true true false true false GOLD 2026-07-17 true https://doi.org/10.3389/fphar.2022.811836 13 0 13 12 1 12 13 10 10 12 12 11 11 12 1 0 13 12 13 12 0 3 3 Folyóiratcikk Journal Article 24 12 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 2022 0 1 1 1 1 2023 0 3 2 3 2 2024 0 3 3 3 3 2025 0 5 5 5 5 2026 0 1 1 1 1 Q1 false 10014760,10001377 false false false 2022-03-02T09:59:58.274+0000 Belgyógyászati és Hematológiai Klinika (SE / AOK / K); Belgyógyászati és Onkológiai Klinika (SE / AOK / K); Enzimológiai Intézet (TTK); MTA-SE Molekuláris Élettani Kutatócsoport (SE / AOK / I / ÉI); Élettani Intézet (SE / AOK / I) 8 29 5 11 0 true 10025544 Language 10002 /api/language/10002 Angol Angol English true 2 true PersonAuthorship 100655364 /api/authorship/100655364 Szalai, Laura [Szalai, Laura (Molekuláris élettan), szerző] Élettani Intézet (SE / AOK / I); MTA-SE Molekuláris Élettani Kutatócsoport (SE / AOK / I / ÉI) 1 0.091 true false false Author 10082499 /api/author/10082499 Szalai Laura (Molekuláris élettan) Szalai Laura true true Szalai Laura true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 100655365 /api/authorship/100655365 Sziráki, András* 2 0.091 true false false Sziráki András true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 100655366 /api/authorship/100655366 Erdélyi, László Sándor [Erdélyi, László Sándor (élettan), szerző] Élettani Intézet (SE / AOK / I) 3 0.091 false false false Author 10024240 /api/author/10024240 Erdélyi László Sándor (élettan) Erdélyi László Sándor true 10024240 true Erdélyi László Sándor true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 100655367 /api/authorship/100655367 Kovács, Kinga Bernadett [Kovács, Kinga Bernadett (Molekuláris élettan), szerző] Élettani Intézet (SE / AOK / I) 4 0.091 false false false Author 10077299 /api/author/10077299 Kovács Kinga Bernadett (Molekuláris élettan) Kovács Kinga Bernadett true true Kovács Kinga Bernadett true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 100655368 /api/authorship/100655368 Tóth, Miklós [Tóth, Miklós (Belgyógyászat, En...), szerző] Belgyógyászati és Onkológiai Klinika (SE / AOK / K) 5 0.09090909 false false false Author 10014760 /api/author/10014760 Tóth Miklós (Belgyógyászat, Endokrinológia) Tóth Miklós true 10014760 true Tóth Miklós true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 100655369 /api/authorship/100655369 Tóth, András Dávid [Tóth, András (Élettan, belgyógy...), szerző] Élettani Intézet (SE / AOK / I); MTA-SE Molekuláris Élettani Kutatócsoport (SE / AOK / I / ÉI); Belgyógyászati és Hematológiai Klinika (SE / AOK / K) 6 0.091 false false false Author 10047932 /api/author/10047932 Tóth András (Élettan, belgyógyászat) Tóth András true 10047932 true Tóth András Dávid true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 100655370 /api/authorship/100655370 Turu, Gábor [Turu, Gábor (Molekuláris Élettan), szerző] Élettani Intézet (SE / AOK / I); MTA-SE Molekuláris Élettani Kutatócsoport (SE / AOK / I / ÉI) 7 0.091 false false false Author 10015489 /api/author/10015489 Turu Gábor (Molekuláris Élettan) Turu Gábor true 10015489 true Turu Gábor true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 100655371 /api/authorship/100655371 Bonnet, Dominique 8 0.09090909 false false false Bonnet Dominique true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 100655372 /api/authorship/100655372 Mouillac, Bernard 9 0.09090909 false false false Mouillac Bernard true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 100655373 /api/authorship/100655373 Hunyady, László** ✉ [Hunyady, László (molekuláris élett...), szerző] Enzimológiai Intézet (TTK); 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Chem., 279, p. 47254, DOI: 10.1074/jbc.M408154200 46 10.1074/jbc.M408154200 false true /api/publication/32679249 Szalai Laura et al. Functional Rescue of a Nephrogenic Diabetes Insipidus Causing Mutation in the V2 Vasopressin Receptor by Specific Antagonist and Agonist Pharmacochaperones. (2022) FRONTIERS IN PHARMACOLOGY 1663-9812 13<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="10082499"><a href="/gui2/?type=authors&mode=browse&sel=10082499" target="_blank">Szalai Laura (<span class="authorship-author-name">Szalai Laura</span> <span class="authorAux-mtmt"> Molekuláris élettan</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>/Élettani Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Élettani Intézet">ÉI</span>/MTA-SE Molekuláris Élettani Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Sziráki András^* </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024240"><a href="/gui2/?type=authors&mode=browse&sel=10024240" target="_blank">Erdélyi László Sándor (<span class="authorship-author-name">Erdélyi László Sándor</span> <span class="authorAux-mtmt"> élettan</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>/Élettani Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10077299"><a href="/gui2/?type=authors&mode=browse&sel=10077299" target="_blank">Kovács Kinga Bernadett (<span class="authorship-author-name">Kovács Kinga Bernadett</span> <span class="authorAux-mtmt"> Molekuláris élettan</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>/Élettani Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10014760"><a href="/gui2/?type=authors&mode=browse&sel=10014760" target="_blank">Tóth Miklós (<span class="authorship-author-name">Tóth Miklós</span> <span class="authorAux-mtmt"> Belgyógyászat, Endokrinológia</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>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10047932"><a href="/gui2/?type=authors&mode=browse&sel=10047932" target="_blank">Tóth András Dávid (<span class="authorship-author-name">Tóth András</span> <span class="authorAux-mtmt"> Élettan, belgyógyászat</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>/Élettani Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Élettani Intézet">ÉI</span>/MTA-SE Molekuláris Élettani Kutatócsoport; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Belgyógyászati és Hematológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10015489"><a href="/gui2/?type=authors&mode=browse&sel=10015489" target="_blank">Turu Gábor (<span class="authorship-author-name">Turu Gábor</span> <span class="authorAux-mtmt"> Molekuláris Élettan</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>/Élettani Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Élettani Intézet">ÉI</span>/MTA-SE Molekuláris Élettani Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Bonnet Dominique </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Mouillac Bernard </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000772"><a href="/gui2/?type=authors&mode=browse&sel=10000772" target="_blank">Hunyady László^** ✉ (<span class="authorship-author-name">Hunyady László</span> <span class="authorAux-mtmt"> molekuláris élettan, kísérletes endokrinológia</span>) </a> </span> <span class="author-affil"><span title="Természettudományi Kutatóközpont">TTK</span>/Enzimológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Élettani Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Élettani Intézet">ÉI</span>/MTA-SE Molekuláris Élettani Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10001377"><a href="/gui2/?type=authors&mode=browse&sel=10001377" target="_blank">Balla András ✉ (<span class="authorship-author-name">Balla András</span> <span class="authorAux-mtmt"> Élettan és biokémia</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>/Élettani Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Élettani Intézet">ÉI</span>/MTA-SE Molekuláris Élettani Kutatócsoport</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;32679249" target="_blank">Functional Rescue of a Nephrogenic Diabetes Insipidus Causing Mutation in the V2 Vasopressin Receptor by Specific Antagonist and Agonist Pharmacochaperones</a></div> <div> <span class="journal-title">FRONTIERS IN PHARMACOLOGY</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/1663-9812">1663-9812</a>)</span>: <span class="journal-volume">13</span> <span class="page"> Paper 811836. 13 p. </span> <span class="year">(2022)</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="10.3389/fphar.2022.811836" target="_blank" href="https://doi.org/10.3389/fphar.2022.811836"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000753736800001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000753736800001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85124557787" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85124557787"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="35153784" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=35153784&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Pharmacology (medical)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Pharmacology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</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: 13</span> | Független: 12 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 10 | Scopus jelölt:&nbsp;10 | WoS/Scopus jelölt:&nbsp;12 | DOI jelölt:&nbsp;13 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;32679249&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 3 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 32679249</span> | <span class="status-data status-APPROVED"> Nyilvános </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"> (K116954) Támogató: OTKA, (K139231), (VEKOP-2.3.2-16-2016-00002) Támogató: NKFIH, (NVKP_16-1-2016-0039) Támogató: NKFIH </div> <div class="lastModified">Utolsó módosítás: 2025.02.26. 00:31 Ladányi Gusztáv (MTMT API user, admin) </div> <div class="lockedBy">Központi kezelésű 2023.04.13. 20:32 Lévayné Deseő Katalin (MTMT Központi admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: These authors have contributed equally to this work and share first authorship: Laura Szalai, András Sziráki These authors have contributed equally to this work and share last authorship: László Hunyady, András Balla</pre> </div></div>