https://m2.mtmt.hu/ hun 2026-04-15 09:38 JournalArticle 30972609 VALIDATED true 0 false 2026-03-26T09:59:59.401+0000 2026-03-26T09:44:34.568+0000 2019-12-09T09:36:02.255+0000 true 10054897 Németh Csilla Emese /api/author/10054897 Author true 10054897 2026-03-25T17:11:58.088+0000 2026-03-25T17:11:58.088+0000 2023-02-07T07:24:02.881+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 1134514 Survey paper true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/1134514 Összefoglaló cikk SubType 102 true 1134514 true 1 /api/category/1 Category true 1 Boel, Annekatrien Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder? true true /api/journal/10001121 REVIEWED true false 10001121 false 10001121 true 1523-0864 1557-7716 Journal FOREIGN 34 11 875 889 875 15 2021 Significance: Cardiovascular disorders are the most important cause of morbidity and mortality in the Western world. Monogenic developmental disorders of the heart and vessels are highly valuable to study the physiological and pathological processes in cardiovascular system homeostasis. The arterial tortuosity syndrome (ATS) is a rare, autosomal recessive connective tissue disorder showing lengthening, tortuosity, and stenosis of the large arteries, with a propensity for aneurysm formation. In histopathology, it associates with fragmentation and disorganization of elastic fibers in several tissues, including the arterial wall. ATS is caused by pathogenic variants in SLC2A10 encoding the facilitative glucose transporter (GLUT)10. Critical Issues: Although several hypotheses have been forwarded, the molecular mechanisms linking disrupted GLUT10 activity with arterial malformations are largely unknown. Recent Advances: The vascular and systemic manifestations and natural history of ATS patients have been largely delineated. GLUT10 was identified as an intracellular transporter of dehydroascorbic acid, which contributes to collagen and elastin cross-linking in the endoplasmic reticulum, redox homeostasis in the mitochondria, and global and gene-specific methylation/hydroxymethylation affecting epigenetic regulation in the nucleus. We revise here the current knowledge on ATS and the role of GLUT10 within the compartmentalization of ascorbate in physiological and diseased states. Future Directions: Centralization of clinical, treatment, and outcome data will enable better management for ATS patients. Establishment of representative animal disease models could facilitate the study of pathomechanisms underlying ATS. This might be relevant for other forms of vascular dysplasia, such as isolated aneurysm formation, hypertensive vasculopathy, and neovascularization. Antioxid. Redox Signal. 00, 000-000. Funding 2008598 /api/funding/2008598 false true Funding 2008599 /api/funding/2008599 false true Funding 2008600 /api/funding/2008600 false true true true 2019 true true true false true false NONE 2026-03-26 false 12 0 11 9 0 10 11 11 11 12 11 10 9 10 2 0 12 10 11 9 0 8 8 Folyóiratcikk Journal Article 24 10 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 1 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 2020 0 1 1 1 1 2021 0 2 2 2 2 2022 0 1 0 1 0 2023 0 5 5 5 5 2024 0 2 2 2 2 2025 0 1 0 1 0 D1 false 10054897,10015704 false false false 2020-01-15T08:14:55.950+0000 Klinikai Kísérleti Kutató Intézet (SE / KSZE); Orvosi Vegytani, Molekuláris Biológiai és Patob... (SE / AOK / I) 3 16 2 8 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 89172265 /api/authorship/89172265 1 0.125 true false false Boel Annekatrien true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89172266 /api/authorship/89172266 2 0.125 false false false Author 10074867 /api/author/10074867 Veszelyi Krisztina Nóra true true Veszelyi Krisztina true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89172267 /api/authorship/89172267 3 0.125 false false false Author 10054897 /api/author/10054897 Németh Csilla Emese true 10054897 true Németh Csilla E true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89172268 /api/authorship/89172268 4 0.125 false false false Beyens Aude true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89172269 /api/authorship/89172269 5 0.125 false false false Willaert Andy true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89172270 /api/authorship/89172270 6 0.125 false false false Coucke Paul true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89172271 /api/authorship/89172271 7 0.125 false true true Callewaert Bert true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 89172272 /api/authorship/89172272 8 0.125 false true true Author 10015704 /api/author/10015704 Margittai Éva true 10015704 true Margittai Éva true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 16217688 /api/publicationidentifier/16217688 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true IDENTICAL 10.1089/ars.2019.7843 https://doi.org/10.1089/ars.2019.7843 false true PublicationIdentifier 16145760 /api/publicationidentifier/16145760 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000496573400001 https://www.webofscience.com/wos/woscc/full-record/000496573400001 false true PublicationIdentifier 19445652 /api/publicationidentifier/19445652 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85090078489 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85090078489 false true PublicationIdentifier 16217687 /api/publicationidentifier/16217687 PlainSource 17 /api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 31621376 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=31621376&dopt=Abstract false true Keyword 13006 /api/keyword/13006 true 13006 true Keyword 1543326 /api/keyword/1543326 true true Keyword 1653779 /api/keyword/1653779 true true Keyword 1653780 /api/keyword/1653780 true true SjrRating 11196119 /api/sjrrating/11196119 42 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 1303 /api/classificationexternal/1303 true 1303 true D1 DIRECT true true /api/publication/30972609 <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" >Boel Annekatrien </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10074867"><a href="/gui2/?type=authors&mode=browse&sel=10074867" target="_blank">Veszelyi Krisztina (<span class="authorship-author-name">Veszelyi Krisztina Nóra</span> <span class="authorAux-mtmt"> molekuláris biológia</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10054897"><a href="/gui2/?type=authors&mode=browse&sel=10054897" target="_blank">Németh Csilla E (<span class="authorship-author-name">Németh Csilla Emese</span> <span class="authorAux-mtmt"> 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>/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Beyens Aude </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Willaert Andy </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Coucke Paul </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Callewaert Bert<sup>**</sup> ✉ </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10015704"><a href="/gui2/?type=authors&mode=browse&sel=10015704" target="_blank">Margittai Éva ✉ (<span class="authorship-author-name">Margittai Éva</span> <span class="authorAux-mtmt"> Molekuláris Biológiai</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Klinikai Kísérleti Kutató Intézet</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;30972609" target="_blank">Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?</a></div> <div> <span class="journal-title">ANTIOXIDANTS & REDOX SIGNALING</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1523-0864">1523-0864</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1557-7716">1557-7716</a>)</span>: <span class="journal-volume">34</span> <span class="journal-issue">11</span> <span class="page"> pp 875-889 </span> <span class="year">(2021)</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_none" title="none"> <a style="color:blue" title="10.1089/ars.2019.7843" target="_blank" href="https://doi.org/10.1089/ars.2019.7843"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000496573400001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000496573400001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85090078489" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85090078489"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="31621376" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=31621376&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Biochemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Clinical Biochemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Physiology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Cell Biology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Molecular Biology&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: 12</span> | Független: 10 | Függő: 2 | Nem jelölt: 0 | WoS jelölt: 11 | Scopus jelölt:&nbsp;11 | WoS/Scopus jelölt:&nbsp;12 | DOI jelölt:&nbsp;11 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;30972609&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 8 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 30972609</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Összefoglaló cikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">PubMed XML</span> </div> <div class="funder"> (FK124442) Támogató: NKFIH, (Bolyai Research Scholarship of the Hungarian Academy of Sciences) Támogató: MTA Bolyai pályázat, Új Nemzeti Kiválóság Program </div> <div class="lastModified">Utolsó módosítás: 2026.03.26. 10:44 Pécsi Éva (MTMT Közp 2,3, admin) </div> </div></div>