Functional Characterization of Clinically Relevant Novel Mutations in Atp7b Gene Using the Saccharomyces Cerevisiae Model
| dc.contributor.author | Şimşek Papur, Özlenen | |
| dc.contributor.author | Terzioğlu, Orhan | |
| dc.contributor.author | Koç, Ahmet | |
| dc.date.accessioned | 2020-07-25T22:12:33Z | |
| dc.date.available | 2020-07-25T22:12:33Z | |
| dc.date.issued | 2016 | |
| dc.description | 41st FEBS Congress on Molecular and Systems Biology for a Better Life -- SEP 03-08, 2016 -- Kusadasi, TURKEY | en_US |
| dc.description.abstract | Wilson disease is an autosomal recessive disorder of copper metabolism characterized as neurodegeneration and liver abnormalities. It is caused by defects in the ATP7B gene. ATP7B is responsible for the sequestration of Cu into secretory vesicles, and this function is exhibited by the orthologous Ccc2p in the yeast. We aimed to characterize clinically-relevant novel mutations of p.T788I, p.V1036I and p.R1038G-fsX8 in yeast lacking the CCC2 gene. | en_US |
| dc.identifier.issn | 1742-464X | |
| dc.identifier.issn | 1742-4658 | |
| dc.identifier.uri | https://hdl.handle.net/11147/9458 | |
| dc.language.iso | en | en_US |
| dc.publisher | Wiley | en_US |
| dc.relation.ispartof | FEBS Journal | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.title | Functional Characterization of Clinically Relevant Novel Mutations in Atp7b Gene Using the Saccharomyces Cerevisiae Model | en_US |
| dc.type | Conference Object | en_US |
| dspace.entity.type | Publication | |
| gdc.author.institutional | Koç, Ahmet | |
| gdc.coar.access | open access | |
| gdc.coar.type | text::conference output | |
| gdc.description.department | İzmir Institute of Technology. Molecular Biology and Genetics | en_US |
| gdc.description.endpage | 272 | en_US |
| gdc.description.publicationcategory | Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı | en_US |
| gdc.description.scopusquality | Q1 | |
| gdc.description.startpage | 272 | en_US |
| gdc.description.volume | 283 | en_US |
| gdc.description.wosquality | Q2 | |
| gdc.identifier.wos | WOS:000383616901450 | |
| gdc.index.type | WoS | |
| gdc.wos.citedcount | 0 | |
| local.message.claim | 2022-06-06T11:56:50.142+0300 | * |
| local.message.claim | |rp00417 | * |
| local.message.claim | |submit_approve | * |
| local.message.claim | |dc_contributor_author | * |
| local.message.claim | |None | * |
| relation.isAuthorOfPublication.latestForDiscovery | d29dea09-1a83-4b6d-808f-e9a8708ab47e | |
| relation.isOrgUnitOfPublication.latestForDiscovery | 9af2b05f-28ac-4013-8abe-a4dfe192da5e |
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