کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8410209 1545114 2017 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Myotonic dystrophy: candidate small molecule therapeutics
ترجمه فارسی عنوان
دیستروفی میوتونی: داروهای مولکولی کوچک نامزد
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوتکنولوژی یا زیست‌فناوری
چکیده انگلیسی
Myotonic dystrophy type 1 (DM1) is a rare multisystemic neuromuscular disorder caused by expansion of CTG trinucleotide repeats in the noncoding region of the DMPK gene. Mutant DMPK transcripts are toxic and alter gene expression at several levels. Chiefly, the secondary structure formed by CUGs has a strong propensity to capture and retain proteins, like those of the muscleblind-like (MBNL) family. Sequestered MBNL proteins cannot then fulfill their normal functions. Many therapeutic approaches have been explored to reverse these pathological consequences. Here, we review the myriad of small molecules that have been proposed for DM1, including examples obtained from computational rational design, HTS, drug repurposing, and therapeutic gene modulation.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Drug Discovery Today - Volume 22, Issue 11, November 2017, Pages 1740-1748
نویسندگان
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