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反义介导的外显子跳跃:利用大自然的技巧治疗罕见遗传病。

Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases.

机构信息

Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

出版信息

Exp Cell Res. 2014 Jul 1;325(1):50-5. doi: 10.1016/j.yexcr.2014.01.026. Epub 2014 Jan 31.

Abstract

Rare diseases can be caused by genetic mutations that disrupt normal pre-mRNA splicing. Antisense oligonucleotide treatment to the splicing thus has therapeutic potential for many rare diseases. In this review we will focus on the state of the art on exon skipping using antisense oligonucleotides as a potential therapy for rare genetic diseases, outlining how this versatile approach can be exploited to correct for different mutations.

摘要

罕见病可能由破坏正常前体 mRNA 剪接的基因突变引起。因此,反义寡核苷酸对剪接的治疗具有治疗许多罕见病的潜力。在这篇综述中,我们将重点介绍使用反义寡核苷酸进行外显子跳跃作为罕见遗传疾病潜在治疗方法的最新技术,概述如何利用这种多功能方法来纠正不同的突变。

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