Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy
Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy
复制标题
解决强直性肌营养不良中 RNA 核滞留的发病机制
作者：
Nikolas P. Mastroyiannopoulos;C. Shammas;L. Phylactou
DM1 (myotonic dystrophy type I) is a common form of muscular dystrophy that affects mainly adults. It is a disease that belongs to the group of defective RNA export diseases, since a major part of the pathogenic mechanism of the disease is the retention of the mutant transcripts in the cell nucleus. The presence of an expanded CUG trinucleotide repeat in the 3′‐UTR (3′‐untranslated region) of the DMPK (myotonic dystrophy protein kinase) gene causes the attraction of RNA‐binding proteins by the nuclear‐located mutant transcripts. As a result of the occupation of the RNA‐binding proteins, there is defective mis‐splicing of several cellular transcripts. This is believed to be a major pathogenic mechanism of the disease and any attempt to repair the activities of the RNA‐binding proteins or target the mutant transcripts should be beneficial for the patients. Certain approaches have been described in the literature and they demonstrate progress in various directions. The purpose of the present review is to summarize the successful attempts to tackle the pathogenesis caused by nuclear retention of mutant transcripts in myotonic dystrophy and to discuss the possible gains from such approaches.
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能够在体外抑制（CUG）重复RNA-MBNL1相互作用的分子的动态组合选择：发现靶向肌发育症的铅化合物（DM1）。
影响因子：
15
作者：
Gareiss, Peter C.;Sobczak, Krzysztof;McNaughton, Brian R.;Palde, Prakash B.;Thornton, Charles A.;Miller, Benjamin L.
通讯作者：
Miller, Benjamin L.
影响因子：
3.5
作者：
Ho, TH;Bundman, D;Cooper, TA
通讯作者：
Cooper, TA
DOI：
10.1073/pnas.94.14.7388
发表时间：
1997-07-08
影响因子：
11.1
作者：
Davis, BM;McCurrach, ME;Housman, DE
通讯作者：
Housman, DE
影响因子：
56.9
作者：
Philips, AV;Timchenko, LT;Cooper, TA
通讯作者：
Cooper, TA
影响因子：
3.7
作者：
Salisbury, Elizabeth;Sakai, Keiko;Timchenko, Lubou T.
通讯作者：
Timchenko, Lubou T.