کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10766681 1050667 2008 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Functional studies on three novel HCNH2 mutations in Taiwan: Identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Functional studies on three novel HCNH2 mutations in Taiwan: Identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect
چکیده انگلیسی
In conclusion, we identified three novel LQTS-related KCNH2 mutations and each had a distinct mechanism of channel defect. For p.R744fs mutant, adding GFP to the C-terminus rescued the glycosylation defect but the channel was still assembly defective indicating a dissociation between glycosylation and assembly defects.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 373, Issue 4, 5 September 2008, Pages 572-578
نویسندگان
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