发明公开
- 专利标题： COMPOUNDS AND METHODS USEFUL FOR STABILIZING PHENYLALANINE HYDROXYLASE MUTATIONS
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申请号： US18114635申请日： 2023-02-27
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公开(公告)号： US20230365592A1公开(公告)日： 2023-11-16
- 发明人: Lucrezia De Pascalis , Heather Jane Finlay , Sandra King , Zenon D. Konteatis , Brian C. Shook
- 申请人： Agios Pharmaceuticals, Inc.
- 申请人地址： US MA Cambridge
- 专利权人： Agios Pharmaceuticals, Inc.
- 当前专利权人： Agios Pharmaceuticals, Inc.
- 当前专利权人地址： US MA Cambridge
- 主分类号： C07D519/00
- IPC分类号： C07D519/00
摘要：
The disclosure relates to compounds of Formula I or a pharmaceutically acceptable salt thereof, wherein, m, R1-R5, R5A, and L are defined herein.
These compounds are useful in methods for stabilizing a mutant PAH protein or reducing blood phenylalanine concentration in a subject suffering from phenylketonuria. In some embodiments, the mutant PAH protein contains at least one R408W, R261Q, R243Q, Y414C, L48S, A403V, I65T, R241C, L348V, R408Q, or V388M mutation. In other embodiments, the mutant PAH protein contains at least one R408W, Y414C, I65T, F39L, R408Q, L348V, R261Q, A300S, or L48S mutation.
These compounds are useful in methods for stabilizing a mutant PAH protein or reducing blood phenylalanine concentration in a subject suffering from phenylketonuria. In some embodiments, the mutant PAH protein contains at least one R408W, R261Q, R243Q, Y414C, L48S, A403V, I65T, R241C, L348V, R408Q, or V388M mutation. In other embodiments, the mutant PAH protein contains at least one R408W, Y414C, I65T, F39L, R408Q, L348V, R261Q, A300S, or L48S mutation.
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