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Article

Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) - 1 Jan 2015

Papur Ozlenen Simsek, Terzioglu Orhan, Koc Ahmet

Abstract excerpt

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 yeast lacking the CCC2 gene. Expression of human wild type ATP7B gene in ccc2Δ...

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PMID: 26004889
DOI: 10.1016/j.jtemb.2015.02.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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