Inzen Therapeutics, 790 Memorial Drive, Suite 201, Cambridge, MA 02139, United States.
Logical Innovations, 22 Waterloo Cir., Dover, NH 03820-4954, United States.
Bioorg Med Chem Lett. 2020 Nov 1;30(21):127462. doi: 10.1016/j.bmcl.2020.127462. Epub 2020 Aug 11.
This review covers case studies in rare disease small molecule drug discovery with an emphasis on the use of new technologies and innovative target approaches. Case studies include examples of covalent modification, inducement of alternative splicing, stop codon readthrough, allosteric activation, and a repurposing example. The review highlights effective use of rare disease animal models, inducible pluripotent stem cells, and biomarkers.
这篇综述涵盖了罕见病小分子药物发现的案例研究，重点介绍了新技术和创新靶标方法的应用。案例研究包括共价修饰、诱导剪接变异体、终止密码子通读、别构激活以及再利用的例子。该综述强调了罕见病动物模型、诱导多能干细胞和生物标志物的有效利用。
