Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/5667
Title: Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model
Authors: Şimşek Papur, Özlenen
Terzioğlu, Orhan
Koç, Ahmet
Keywords: Copper
Saccharomyces cerevisiae
Wilson disease
CCC2 gene
ATP7B gene
Issue Date: Jul-2015
Publisher: Urban und Fischer Verlag GmbH und Co. KG
Source: Şimşek 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.2015.02.006
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 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.
URI: http://doi.org/10.1016/j.jtemb.2015.02.006
http://hdl.handle.net/11147/5667
ISSN: 0946-672X
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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