治疗单倍蛋白缺乏疾病的治疗开发方法:恢复蛋白质水平。

IF 6.5 2区 医学 Q1 PHARMACOLOGY & PHARMACY
Elena F. Evans , Zeenat A. Shyr , Bryan J. Traynor , Wei Zheng
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引用次数: 0

摘要

每十人中就有一人患有罕见病,但其中只有一小部分疾病的治疗方法获得了美国食品及药物管理局(FDA)的批准。由显性功能缺失突变引起的单倍体缺乏症是一种独特的罕见病,因为患者有一个受影响基因的正常等位基因。这使得罕见的单倍蛋白缺乏症有望通过增加正常基因等位基因的表达、减少靶蛋白降解和增强靶蛋白功能来开发药物。本综述总结了治疗单倍体缺乏症的转化研究的最新进展和方法,包括基因治疗、核苷酸治疗和小分子药物开发。我们希望这些药物开发策略能加速治疗单倍体缺失症的疗法开发。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Therapeutic development approaches to treat haploinsufficiency diseases: restoring protein levels
Rare diseases affect one in ten people but only a small fraction of these diseases have an FDA-approved treatment. Haploinsufficiency, caused by a dominant loss-of-function mutation, is a unique rare disease group because patients have one normal allele of the affected gene. This makes rare haploinsufficiency diseases promising candidates for drug development by increasing expression of the normal gene allele, decreasing the target protein degradation and enhancing the target protein function. This review summarizes recent progresses and approaches used in the translational research of therapeutics to treat haploinsufficiency diseases including gene therapy, nucleotide-based therapeutics and small-molecule drug development. We hope that these drug development strategies will accelerate therapeutic development to treat haploinsufficiency diseases.
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来源期刊
Drug Discovery Today
Drug Discovery Today 医学-药学
CiteScore
14.80
自引率
2.70%
发文量
293
审稿时长
6 months
期刊介绍: Drug Discovery Today delivers informed and highly current reviews for the discovery community. The magazine addresses not only the rapid scientific developments in drug discovery associated technologies but also the management, commercial and regulatory issues that increasingly play a part in how R&D is planned, structured and executed. Features include comment by international experts, news and analysis of important developments, reviews of key scientific and strategic issues, overviews of recent progress in specific therapeutic areas and conference reports.
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