کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5507667 1537274 2017 36 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Altered expression of the FMR1 splicing variants landscape in premutation carriers
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Altered expression of the FMR1 splicing variants landscape in premutation carriers
چکیده انگلیسی
Our findings suggest that the characterization of the expression levels of the different FMR1 isoforms is fundamental for understanding the regulation of the FMR1 gene as imbalance in their expression could lead to an altered functional diversity with neurotoxic consequences. Their characterization will also help to elucidating the mechanism(s) by which “toxic gain of function” of the FMR1 mRNA may play a role in FXTAS and/or in the other FMR1-associated conditions.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms - Volume 1860, Issue 11, November 2017, Pages 1117-1126
نویسندگان
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