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1. 发明申请

WO2020167624A1 PYRROLO[2,3-D]PYRIMIDINE COMPOUNDS FOR TREATING FAMILIAL DYSAUTONOMIA 审中-公开
公开(公告)号：WO2020167624A1
公开(公告)日：2020-08-20
申请号：PCT/US2020/017423
申请日：2020-02-10
申请人： PTC THERAPEUTICS, INC.
发明人： WANG, Jiashi , ARNOLD, Michael, A. , DAKKA, Amal , KARP, Gary, Mitchell , NARASIMHAN, Jana , NARYSHKIN, Nikolai, A. , ZHANG, Nanjing
IPC分类号： A61P25/00 , C07D487/04 , A61K31/519
摘要： The present description relates to compounds of formula (I) useful for improving pre-mRNA splicing in a cell. In particular, another aspect described herein relates to substituted pyrrolo[2,3-d]pyrimidine compounds, forms, and pharmaceutical compositions thereof and methods of use for treating or ameliorating familial dysautonomia.

2. 发明申请

WO2018232039A1 METHODS FOR MODIFYING RNA SPLICING 审中-公开
公开(公告)号：WO2018232039A1
公开(公告)日：2018-12-20
申请号：PCT/US2018/037412
申请日：2018-06-13
申请人： PTC THERAPEUTICS, INC.
发明人： BHATTACHARYYA, Anuradha , DAKKA, Amal , EFFENBERGER, Kerstin , GABBETA, Vijayalakshmi , JANI, Minakshi, B. , LI, Wencheng , NARYSHKIN, Nikolai , TROTTA, Christopher , WIEDINGER, Kari
IPC分类号： A61K48/00 , A61K31/711 , C12N15/11 , A61K31/501
摘要： Described herein is an intronic recognition element for splicing modifier (iREMS) that can be recognized by a small 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.

3. 发明申请

WO2020167628A1 THIOENO[3,2-B] PYRIDIN-7-AMINE COMPOUNDS FOR TREATING FAMILIAL DYSAUTONOMIA 审中-公开
公开(公告)号：WO2020167628A1
公开(公告)日：2020-08-20
申请号：PCT/US2020/017430
申请日：2020-02-10
申请人： PTC THERAPEUTICS, INC.
发明人： ZHANG, Nanjing , ARNOLD, Michael, A. , DAKKA, Amal , KARP, Gary, Mitchell , LUONG, Tom, Tuan , NARASIMHAN, Jana , NARYSHKIN, Nikolai, A. , WANG, Jiashi , ZHANG, Xiaoyan
IPC分类号： A61P25/00 , C07D495/04 , A61K31/4365
摘要： The present description relates'to compounds of formula (I) useful for improving pre-mRNA splicing in a cell. In particular, another aspect of the present description relates to substituted thieno[3,2-b]pyridine compounds, forms, and pharmaceutical compositions thereof and methods of use for treating or ameliorating familial dysautonomia.

4. 发明申请

WO2014209841A3 COMPOUNDS FOR TREATING SPINAL MUSCULAR ATROPHY 审中-公开
公开(公告)号：WO2014209841A3
公开(公告)日：2014-12-31
申请号：PCT/US2014/043577
申请日：2014-06-23
申请人： F. HOFFMANN-LA ROCHE AG , HOFFMANN-LA ROCHE INC. , PTC THERAPEUTICS INC.
发明人： DAKKA, Amal , GREEN, Luke , KARP, Gary , NARASIMHAN, Jana , NARYSHKIN, Nikolai , PINARD, Emmanuel , QI, Hongyan , RATNI, Hasane , RISHER, Nicole , WEETALL, Marla , WOLL, Matthew
IPC分类号： A61K31/497 , A61K31/4965 , C07D401/00
摘要： The present invention provides compounds of formula (I) wherein A, B, X, Y, R1 and R2 are as described herein, as well as pharmaceutically acceptable salts thereof. Further the present invention is concerned with the manufacture of the compounds of formula (I), pharmaceutical compositions comprising them and their use as medicaments.

5. 发明申请

WO2013112788A1 COMPOUNDS FOR TREATING SPINAL MUSCULAR ATROPHY 审中-公开
公开(公告)号：WO2013112788A1
公开(公告)日：2013-08-01
申请号：PCT/US2013/023067
申请日：2013-01-25
申请人： PTC THERAPEUTICS, INC.
发明人： CHEN, Guangming , DAKKA, Amal , KARP, Gary Mitchell , LI, Chunshi , NARASIMHAN, Jana , NARYSHKIN, Nikolai , WEETALL, Maria L. , WELCH, Ellen , ZHAO, Xin
IPC分类号： A61K31/44 , A01N43/42
CPC分类号： C07D513/04 , C07D311/76 , C07D405/04 , C07D405/14 , C07D407/04 , C07D409/04 , C07D409/14 , C07D471/04 , C07D487/04 , C07D497/04
摘要： Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy.

6. 发明申请

WO2013101974A8 COMPOUNDS FOR TREATING SPINAL MUSCULAR ATROPHY 审中-公开
公开(公告)号：WO2013101974A8
公开(公告)日：2013-07-04
申请号：PCT/US2012/071899
申请日：2012-12-28
申请人： PTC THERAPEUTICS, INC. , F. HOFFMANN-LA ROCHE AG
发明人： WOLL, Matthew G. , CHEN, Guangming , CHOI, Soongyu , DAKKA, Amal , HUANG, Song , KARP, Gary Mitchell , LEE, Chang-Sun , LI, Chunshi , NARASIMHAN, Jana , NARYSHKIN, Nikolai , PAUSHKIN, Sergey , QI, Hongyan , TURPOFF, Anthony A. , WEETALL, Marla L. , WELCH, Ellen , YANG, Tianle , ZHANG, Nanjing , ZHANG, Xiaoyan , ZHAO, Xin , PINARD, Emmanuel , RATNI, Hasane
IPC分类号： A61K31/353
摘要： Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy. In a specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN2 into mRNA that is transcribed from the SMN2 gene. In another specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 into mRNA that is transcribed from the SMN1 gene. In yet another embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 and SMN2 into mRNA that is transcribed from the SMN1 and SMN2 genes, respectively.

7. 发明申请

WO2013101974A1 COMPOUNDS FOR TREATING SPINAL MUSCULAR ATROPHY 审中-公开
标题翻译：用于治疗脊柱肌瘤的化合物
公开(公告)号：WO2013101974A1
公开(公告)日：2013-07-04
申请号：PCT/US2012/071899
申请日：2012-12-28
申请人： PTC THERAPEUTICS, INC. , F. HOFFMANN-LA ROCHE AG
发明人： WOLL, Matthew G. , CHEN, Guangming , CHOI, Soongyu , DAKKA, Amal , HUANG, Song , KARP, Gary Mitchell , LEE, Chang-Sun , LI, Chunshi , NARASIMHAN, Jana , NARYSHKIN, Nikolai , PAUSHKIN, Sergey , QI, Hongyan , TURPOFF, Anthony A. , WEETALL, Marla L. , WELCH, Ellen , YANG, Tianle , ZHANG, Nanjing , ZHANG, Xiaoyan , ZHAO, Xin , PINARD, Emmanuel , RATNI, Hasane
IPC分类号： A61K31/353
CPC分类号： C07D487/04 , C07D231/12 , C07D311/16 , C07D311/18 , C07D405/04 , C07D405/12 , C07D405/14 , C07D413/04 , C07D413/14 , C07D417/04 , C07D417/14 , C07D471/04 , C07D491/04 , C07D495/04 , C07D513/04 , C07D519/00
摘要： Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy. In a specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN2 into mRNA that is transcribed from the SMN2 gene. In another specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 into mRNA that is transcribed from the SMN1 gene. In yet another embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 and SMN2 into mRNA that is transcribed from the SMN1 and SMN2 genes, respectively.
摘要翻译：本文提供了化合物，其组合物，并用于治疗脊髓性肌肉萎缩。在一个具体实施方案中，本文提供了可用于调节SMN2外显子7包含在从SMN2基因转录的mRNA中的形式的化合物。在另一个具体实施方案中，本文提供了可用于调节SMN1外显子7包含在从SMN1基因转录的mRNA中的形式的化合物。在另一个实施方案中，本文提供的形式的化合物可用于调节SMN1和SMN2的外显子7包含在分别从SMN1和SMN2基因转录的mRNA中。

8. 发明申请

WO2021118929A1 COMPOUNDS FOR TREATING FAMILIAL DYSAUTONOMIA 审中-公开
公开(公告)号：WO2021118929A1
公开(公告)日：2021-06-17
申请号：PCT/US2020/063612
申请日：2020-12-07
申请人： PTC THERAPEUTICS, INC.
发明人： ZHANG, Nanjing , ARNOLD, Michael, A. , DAKKA, Amal , KARP, Gary, Mitchell , LUONG, Tom, Tuan , MORRILL, Christie , NARASIMHAN, Jana , NARYSHKIN, Nikolai, A. , TURPOFF, Anthony , WANG, Jiashi , ZHANG, Xiaoyan
IPC分类号： A61P25/00 , C07D495/04 , A61K31/519
摘要： The present description relates to compounds useful for improving pre-mRNA splicing in a cell. In particular, another aspect of the present description relates to substituted thieno [3,2-d]pyrimidine compounds, forms, and pharmaceutical compositions thereof and methods of use for treating or ameliorating familial dysautonomia.

9. 发明申请

WO2018098446A1 METHODS FOR MODULATING RNA SPLICING 审中-公开
公开(公告)号：WO2018098446A1
公开(公告)日：2018-05-31
申请号：PCT/US2017/063323
申请日：2017-11-27
申请人： PTC THERAPEUTICS, INC
发明人： BHATTACHARYYA, Anuradha , DAKKA, Amal , EFFENBERGER, Kerstin , GABBETA, Vijayalakshmi , LI, Wencheng , NARYSHKIN, Nikolai , TROTTA, Christopher , WIEDINGER, Kari
IPC分类号： A01N43/90 , A61K31/519 , C07D239/70
摘要： In one aspect, described herein is an intronic recognition element for splicing modifier (iREMS) that can be recognized by a compound provided herein. In another aspect, described herein are methods for modulating the amount of a product of a gene, wherein a precursor RNA transcript transcribed from the gene contains an intronic REMS, and the methods utilizing a compound described herein. More particularly, described herein are methods for modulating the amount of an RNA transcript or protein product encoded by a gene, wherein a precursor RNA transcript transcribed from the gene comprises an intronic REMS, and the methods utilizing a compound described herein. In another aspect, provided herein are artificial gene constructs comprising an intronic REMS, and uses of those artificial gene constructs to modulate protein production. In another aspect, provided herein are methods for altering endogenous genes to comprise an intronic REMS, and the use of a compound described herein to modulate protein produced from such altered endogenous genes.

10. 发明申请

WO2016196386A1 METHODS FOR MODULATING RNA SPLICING 审中-公开
标题翻译：调节RNA分离的方法
公开(公告)号：WO2016196386A1
公开(公告)日：2016-12-08
申请号：PCT/US2016/034864
申请日：2016-05-27
申请人： PTC THERAPEUTICS, INC.
发明人： NARYSHKIN, Nikolai , DAKKA, Amal
IPC分类号： A01N43/90 , A61K31/519 , C07D239/70
CPC分类号： A61K48/0025 , A61K31/519 , A61K31/711 , C07D239/70 , C12N15/11 , C12N15/85 , C12N2320/33
摘要： In one aspect, described herein is a recognition element for splicing modifier (REMS) that can be recognized by a compound provided herein. In another aspect, described herein are methods for modulating the amount of a product of a gene, wherein a precursor RNA transcript transcribed from the gene contains a REMS, and the methods utilizing a compound described herein. More particularly, described herein are methods for modulating the amount of an RNA transcript or protein product encoded by a gene, wherein a precursor RNA transcript transcribed from the gene comprises a REMS, and the methods utilizing a compound described herein. In another aspect, provided herein are artificial gene constructs comprising a REMS, and uses of those artificial gene constructs to modulate functional protein production. In another aspect, provided herein are methods for altering endogenous genes to comprise a REMS, and the use of a compound described herein to modulate the functional protein produced from such altered endogenous genes.
摘要翻译：在一个方面，本文描述了可由本文提供的化合物识别的剪接修饰物（REMS）的识别元件。在另一方面，本文描述了调节基因产物的量的方法，其中从基因转录的前体RNA转录物含有REMS，以及利用本文所述化合物的方法。更具体地，本文描述了调节由基因编码的RNA转录物或蛋白质产物的量的方法，其中从基因转录的前体RNA转录物包含REMS，以及使用本文所述化合物的方法。在另一方面，本文提供了包含REMS的人工基因构建体，以及这些人造基因构建体用于调节功能蛋白质产生的用途。在另一方面，本文提供了用于改变内源基因以包含REMS的方法，以及本文所述的化合物用于调节由这种改变的内源基因产生的功能性蛋白质的用途。

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