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Title: Functional characterization of clinically relevant novel mutations in ATP7B gene using the Saccharomyces cerevisiae model
Authors: Şimşek Papur, Özlenen
Terzioğlu, Orhan
Koç, Ahmet
Issue Date: 2016
Publisher: Wiley
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.
Description: 41st FEBS Congress on Molecular and Systems Biology for a Better Life -- SEP 03-08, 2016 -- Kusadasi, TURKEY
ISSN: 1742-464X
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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