کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6022645 | 1580678 | 2012 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
عصب شناسی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through](/preview/png/6022645.png)
چکیده انگلیسی
⺠Dravet syndrome-associated mutation GABRG2(Q40X) decreased γ2 subunit mRNA levels. ⺠Undegraded mutant mRNA was translated to truncated γ2 subunits that were cleaved. ⺠Mutant γ2(Q40X) subunits were not assembled into functional GABAA receptors. ⺠Aminoglycosides partially rescued wildtype γ2 subunit expression from mutant mRNA. ⺠Rescued γ2 subunits had the same expression and function as wildtype γ2 subunits.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Disease - Volume 48, Issue 1, October 2012, Pages 115-123
Journal: Neurobiology of Disease - Volume 48, Issue 1, October 2012, Pages 115-123
نویسندگان
Xuan Huang, Mengnan Tian, Ciria C. Hernandez, Ningning Hu, Robert L. Macdonald,