公开(公告)号：US20200370043A1

公开(公告)日：2020-11-26

申请号：US16622223

申请日：2018-06-13

申请人： PTC THERAPEUTICS, INC.

发明人： Anuradha BHATTACHARYYA ,  Amal DAKKA ,  Kerstin EFFENBERGER ,  Vijayalakshmi GABBETA ,  Minakshi B. JANI ,  Wencheng LI ,  Nikolai NARYSHKIN ,  Christopher TROTTA ,  Kari WIEDINGER

IPC分类号： C12N15/11 ,  C07D417/02 ,  C07D417/14 ,  C07D401/02 ,  C07D401/14

摘要： Described herein is an intronic recognition element for splicing modifier (iREMS) that can be recognized by a small en molecule splicing modifier compound of Formula (I) provided herein or a form thereof, wherein W, X, A and B are as defined herein. In one aspect, methods for modifying RNA splicing to modulate the amount of a product of a gene, wherein a precursor RNA transcript transcribed from the gene that contains an intronic REMS is modified utilizing a splicing modifier compound of Formula (I), are described herein. In another aspect, methods for modifying RNA splicing to modulate the amount of an RNA transcript or protein product encoded by a gene, wherein a precursor RNA transcript transcribed from the gene is modified to comprise an intronic REMS utilizing a splicing modifier compound of Formula (I), are described herein.