001008582 001__ 1008582
001008582 005__ 20231027114408.0
001008582 0247_ $$2doi$$a10.1111/cge.14352
001008582 0247_ $$2ISSN$$a0009-9163
001008582 0247_ $$2ISSN$$a1399-0004
001008582 0247_ $$2datacite_doi$$a10.34734/FZJ-2023-02415
001008582 0247_ $$2pmid$$a37157876
001008582 0247_ $$2WOS$$aWOS:000985098200001
001008582 037__ $$aFZJ-2023-02415
001008582 082__ $$a610
001008582 1001_ $$00000-0002-8438-8692$$aStalke, Amelie$$b0$$eCorresponding author
001008582 245__ $$aFunctional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease
001008582 260__ $$aMalden, Mass.$$bWiley$$c2023
001008582 3367_ $$2DRIVER$$aarticle
001008582 3367_ $$2DataCite$$aOutput Types/Journal article
001008582 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1692961738_31766
001008582 3367_ $$2BibTeX$$aARTICLE
001008582 3367_ $$2ORCID$$aJOURNAL_ARTICLE
001008582 3367_ $$00$$2EndNote$$aJournal Article
001008582 520__ $$aWilson's disease (WD, MIM#277900) is an autosomal recessive disorder resulting in copper excess caused by biallelic variants in the ATP7B gene (MIM#606882) encoding a copper transporting P-type ATPase. ATP7B variants of unknown significance (VUS) are detected frequently, sometimes impeding a clear diagnosis. Functional analyses can help to classify these variants as benign or pathogenic. Additionally, variants already classified as (likely) pathogenic benefit from functional analyses to understand their pathomechanism, thus contribute to the development of personalized treatment approaches in the future. We described clinical features of six WD patients and functionally characterized five ATP7B missense variants (two VUS, three yet uncharacterized likely pathogenic variants), detected in these patients. We determined the protein level, copper export capacity, and cellular localization in an in vitro model and potential structural consequences using an ATP7B protein model based on AlphaFold. Our analyses give insight into the pathomechanism and allowed reclassification for the two VUS to likely pathogenic and for two of the three likely pathogenic variants to pathogenic
001008582 536__ $$0G:(DE-HGF)POF4-2171$$a2171 - Biological and environmental resources for sustainable use (POF4-217)$$cPOF4-217$$fPOF IV$$x0
001008582 536__ $$0G:(GEPRIS)433387263$$aDFG project 433387263 - Next-Generation Sequencing und funktionelle Charakterisierung von Varianten unklarer Signifikanz in pädiatrischen Hepatopathien (433387263)$$c433387263$$x1
001008582 588__ $$aDataset connected to CrossRef, Journals: juser.fz-juelich.de
001008582 7001_ $$0P:(DE-HGF)0$$aBehrendt, Annika$$b1
001008582 7001_ $$0P:(DE-HGF)0$$aHennig, Finja$$b2
001008582 7001_ $$0P:(DE-Juel1)172663$$aGohlke, Holger$$b3$$ufzj
001008582 7001_ $$0P:(DE-HGF)0$$aBuhl, Nicole$$b4
001008582 7001_ $$0P:(DE-HGF)0$$aReinkens, Thea$$b5
001008582 7001_ $$0P:(DE-HGF)0$$aBaumann, Ulrich$$b6
001008582 7001_ $$0P:(DE-HGF)0$$aSchlegelberger, Brigitte$$b7
001008582 7001_ $$0P:(DE-HGF)0$$aIllig, Thomas$$b8
001008582 7001_ $$0P:(DE-HGF)0$$aPfister, Eva-Doreen$$b9
001008582 7001_ $$0P:(DE-HGF)0$$aSkawran, Britta$$b10
001008582 773__ $$0PERI:(DE-600)2004581-5$$a10.1111/cge.14352$$gp. cge.14352$$n2$$p174-185$$tClinical genetics$$v104$$x0009-9163$$y2023
001008582 8564_ $$uhttps://juser.fz-juelich.de/record/1008582/files/Clinical%20Genetics%20-%202023%20-%20Stalke.pdf$$yOpenAccess
001008582 909CO $$ooai:juser.fz-juelich.de:1008582$$pdnbdelivery$$pdriver$$pVDB$$popen_access$$popenaire
001008582 9101_ $$0I:(DE-588b)5008462-8$$6P:(DE-Juel1)172663$$aForschungszentrum Jülich$$b3$$kFZJ
001008582 9131_ $$0G:(DE-HGF)POF4-217$$1G:(DE-HGF)POF4-210$$2G:(DE-HGF)POF4-200$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$9G:(DE-HGF)POF4-2171$$aDE-HGF$$bForschungsbereich Erde und Umwelt$$lErde im Wandel – Unsere Zukunft nachhaltig gestalten$$vFür eine nachhaltige Bio-Ökonomie – von Ressourcen zu Produkten$$x0
001008582 9141_ $$y2023
001008582 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2022-11-22
001008582 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2022-11-22
001008582 915__ $$0LIC:(DE-HGF)CCBYNCND4$$2HGFVOC$$aCreative Commons Attribution-NonCommercial-NoDerivs CC BY-NC-ND 4.0
001008582 915__ $$0StatID:(DE-HGF)3001$$2StatID$$aDEAL Wiley$$d2022-11-22$$wger
001008582 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2022-11-22
001008582 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
001008582 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bCLIN GENET : 2022$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2023-10-22
001008582 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5$$d2023-10-22
001008582 920__ $$lyes
001008582 9201_ $$0I:(DE-Juel1)IBG-4-20200403$$kIBG-4$$lBioinformatik$$x0
001008582 980__ $$ajournal
001008582 980__ $$aVDB
001008582 980__ $$aUNRESTRICTED
001008582 980__ $$aI:(DE-Juel1)IBG-4-20200403
001008582 9801_ $$aFullTexts