Functional characterization of new mutations in Wilson disease gene ATP7B using the yeast model
| dc.authorid | 143737 | en_US |
| dc.authorid | 175060 | en_US |
| dc.contributor.author | Papur, Özlenen Şimşek | |
| dc.contributor.author | Koç, Ahmet | |
| dc.contributor.author | Terzioğlu, Orhan | |
| dc.date.accessioned | 2017-06-04T12:08:16Z | |
| dc.date.available | 2017-06-04T12:08:16Z | |
| dc.date.issued | 2015 | |
| dc.department | İnönü Üniversitesi | en_US |
| dc.description | Journal of Trace Elements in Medicine and Biology 31 (2015) 33–36 | en_US |
| dc.description.abstract | The 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 yeastlacking the CCC2 gene. Expression of human wild type ATP7B gene in ccc2 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.identifier.citation | Şimşek Papur, Ö., Orhan, Terzioğlu, & Koç, A. (2015). Functional Characterization Of New Mutations İn Wilson Disease Gene Atp7b Using The Yeast Model . J Trace Elem Med Biol., 31, 33–36. | en_US |
| dc.identifier.endpage | 36 | en_US |
| dc.identifier.issue | 0 | en_US |
| dc.identifier.startpage | 33 | en_US |
| dc.identifier.uri | http://www.sciencedirect.com/science/article/pii/S0946672X15000309?via%3Dihub | |
| dc.identifier.uri | https://hdl.handle.net/11616/7048 | |
| dc.identifier.volume | 31 | en_US |
| dc.language.iso | tr | en_US |
| dc.publisher | J Trace Elem Med Biol. | en_US |
| dc.relation.ispartof | J Trace Elem Med Biol. | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | ATP7B | en_US |
| dc.subject | Wilson disease | en_US |
| dc.subject | Copper | en_US |
| dc.subject | Saccharomyces cerevisiae | en_US |
| dc.subject | CCC2 | en_US |
| dc.title | Functional characterization of new mutations in Wilson disease gene ATP7B using the yeast model | en_US |
| dc.type | Article | en_US |
