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dc.contributor.authorŞimşek Papur, Özlenen
dc.contributor.authorTerzioğlu, Orhan
dc.contributor.authorKoç, Ahmet
dc.date.accessioned2017-06-01T07:21:19Z
dc.date.available2017-06-01T07:21:19Z
dc.date.issued2015-07
dc.identifier.citationŞimşek Papur, Ö., Terzioğlu, O., and Koç, A. (2015). Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model. Journal of Trace Elements in Medicine and Biology, 31, 33-36. doi:10.1016/j.jtemb.2015.02.006en_US
dc.identifier.issn0946-672X
dc.identifier.urihttp://doi.org/10.1016/j.jtemb.2015.02.006
dc.identifier.urihttp://hdl.handle.net/11147/5667
dc.description.abstractThe Wilson disease gene, a copper transporting ATPase (Atp7b), is responsible for the sequestration of Cu into secretory vesicles, and this function is exhibited by the orthologous Ccc2p in the yeast. In this study, we aimed to characterize clinically relevant new mutations of human ATP7B (p.T788I, p.V1036I and p.R1038G-fsX83) in yeast lacking the CCC2 gene. Expression of human wild type ATP7B gene in ccc2δ mutant yeast restored the growth deficiency and copper transport activity; however, expression of the mutant forms did not restore the copper transport functions and only partially supported the cell growth. Our data support that p.T788I, p.V1036I and p.R1038G-fsX83 mutations cause functional deficiency in ATP7B functions and suggest that these residues are important for normal ATP7B function.en_US
dc.description.sponsorshipDokuz Eylul University Research Foundation (2010.KB.SAG.003)en_US
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.relation.isversionof10.1016/j.jtemb.2015.02.006en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCopperen_US
dc.subjectSaccharomyces cerevisiaeen_US
dc.subjectWilson diseaseen_US
dc.subjectCCC2 geneen_US
dc.subjectATP7B geneen_US
dc.titleFunctional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast modelen_US
dc.typearticleen_US
dc.contributor.institutionauthorKoç, Ahmet
dc.relation.journalJournal of Trace Elements in Medicine and Biologyen_US
dc.contributor.departmentİYTE, Fen Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.identifier.volume31en_US
dc.identifier.startpage33en_US
dc.identifier.endpage36en_US
dc.identifier.wosWOS:000356192400005
dc.identifier.scopusSCOPUS:2-s2.0-84940167287
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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