Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik

Permanent URI for this collectionhttps://hdl.handle.net/11147/9

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Author: search.filters.author.Terzioğlu, OrhanPublisher: search.filters.publisher.Wiley

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  • Conference Object
    Functional Characterization of Clinically Relevant Novel Mutations in Atp7b Gene Using the Saccharomyces Cerevisiae Model
    (Wiley, 2016) Şimşek Papur, Özlenen; Koç, Ahmet; Terzioğlu, Orhan; Koç, Ahmet; 04.03. Department of Molecular Biology and Genetics; 04. Faculty of Science; 01. Izmir Institute of Technology
    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.