کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1226413 1494825 2015 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model
ترجمه فارسی عنوان
ویژگی عملکردی جهش های جدید در ژن بیماری ویسون (ATP7B) با استفاده از مدل مخمر
کلمات کلیدی
موضوعات مرتبط
مهندسی و علوم پایه شیمی شیمی آنالیزی یا شیمی تجزیه
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Trace Elements in Medicine and Biology - Volume 31, July 2015, Pages 33–36
نویسندگان
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