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1. 发明申请

WO2018053632A1 METHODS OF MODIFYING THE DYSTROPHIN GENE AND RESTORING DYSTROPHIN EXPRESSION AND USES THEREOF 审中-公开
标题翻译：修复Dostrophin基因及恢复Dystrophin表达的方法及其应用
公开(公告)号：WO2018053632A1
公开(公告)日：2018-03-29
申请号：PCT/CA2017/051109
申请日：2017-09-21
申请人： UNIVERSITÉ LAVAL
发明人： TREMBLAY, Jacques P. , LYOMBE-ENGEMBE, Jean-Paul , CHAPDELAINE, Pierre , AGUDELO, Daniel , DUCHÊNE, Benjamin
IPC分类号： C12N15/12 , A61K48/00 , A61P21/00 , C07K14/47 , C12N15/09 , C12N15/11 , C12N15/86 , C12N9/22
摘要： Methods for modifying a dystrophin gene are disclosed, for restoring dystrophin expression within a cell having an endogenous frameshift or nonsense mutation within the dystrophin gene. The methods comprise introducing a first cut within an exon or intron of the dystrophin gene creating a first exon end or intron end, wherein said first cut is located upstream of the endogenous frameshift or nonsense mutation; and introducing a second cut within an exon or intron of the dystrophin gene creating a second exon end or intron end, wherein said second cut is located downstream of the frameshift or nonsense mutation. Upon joining/ligation of said first and second exon ends or intron ends a hybrid exon or intron junction is created and dystrophin expression is restored, as the correct reading frame is restored. Reagents and uses of the method are also disclosed, for example to treat a subject suffering from muscular dystrophy.
摘要翻译：公开了用于修复肌营养不良蛋白基因的方法，用于恢复肌营养不良蛋白在肌营养不良蛋白基因内具有内源性移码或无义突变的细胞内的表达。所述方法包括在肌营养不良蛋白基因的外显子或内含子内引入第一次切割，产生第一外显子末端或内含子末端，其中所述第一次切割位于内源移码或无义突变的上游; 并在肌营养不良蛋白基因的外显子或内含子内引入第二次切割，产生第二外显子末端或内含子末端，其中所述第二次切割位于移码或无义突变的下游。在连接/连接所述第一和第二外显子末端或内含子末端时，随着恢复正确的阅读框架，产生杂交外显子或内含子连接并恢复肌养蛋白表达。还公开了该方法的试剂和用途，例如用于治疗患有肌营养不良症的受试者。

2. 发明申请

WO2015139139A1 CRISPR-BASED METHODS AND PRODUCTS FOR INCREASING FRATAXIN LEVELS AND USES THEREOF 审中-公开
标题翻译：基于CRISPR的方法和增加FRATAXIN水平的产品及其用途
公开(公告)号：WO2015139139A1
公开(公告)日：2015-09-24
申请号：PCT/CA2015/050213
申请日：2015-03-20
申请人： UNIVERSITÉ LAVAL
发明人： TREMBLAY, Jacques P. , CHAPDELAINE, Pierre , ROUSSEAU, Joël
IPC分类号： C12N15/113 , A61K47/48 , A61P25/28 , A61P9/00 , C07H21/02 , C07K14/22 , C07K14/315 , C07K14/47 , C07K19/00 , C12N15/11 , C12N15/12 , C12N15/62 , C12N15/63 , C12N15/86
CPC分类号： C07K14/4705 , A61K48/005 , A61K48/0066 , C07K14/47 , C07K2319/80 , C12N9/16 , C12N9/22 , C12N15/102 , C12N15/113 , C12N15/63 , C12N15/907 , C12N2310/10 , C12N2310/20
摘要： Methods and products (e.g., gRNAs, recombinant fusion proteins, frataxin targeting systems, compositions and kits) are described for increasing frataxin expression/levels in a cell, as well as uses of such methods and products, for example for the treatment of Friedreich ataxia in a subject suffering therefrom.
摘要翻译：描述了用于增加细胞中frataxin表达/水平的方法和产品（例如，gRNA，重组融合蛋白，frataxin靶向系统，组合物和试剂盒），以及这些方法和产品的用途，例如用于治疗Friedreich共济失调在遭受苦难的受试者中。

3. 发明申请

WO2013071440A1 METHODS AND PRODUCTS FOR INCREASING FRATAXIN LEVELS AND USES THEREOF 审中-公开
标题翻译：增加FRATAXIN水平的方法和产品及其用途
公开(公告)号：WO2013071440A1
公开(公告)日：2013-05-23
申请号：PCT/CA2012/050817
申请日：2012-11-16
申请人： UNIVERSITÉ LAVAL
发明人： TREMBLAY, Jacques P. , ROUSSEAU, Joël , CHAPDELAINE, Pierre , COULOMBE, Zoé
IPC分类号： C07K19/00 , A61K38/17 , A61P25/28 , C07K14/195 , C07K14/47 , C07K17/02 , C12N15/62 , C12N15/85 , C12N5/07
CPC分类号： C07K19/00 , A61K38/00 , A61K38/16 , C07K14/195 , C07K14/47 , C07K2319/09 , C07K2319/10 , C07K2319/21 , C07K2319/71 , C07K2319/80
摘要： Methods and products (e.g., recombinant proteins) are described for increasing frataxin expression/levels in a cell, as well as uses of such methods and products, for example for the treatment of Friedreich ataxia in a subject suffering therefrom.
摘要翻译：描述了用于增加细胞中frataxin表达/水平的方法和产物（例如重组蛋白），以及这些方法和产品的用途，例如用于治疗受试者的Friedreich共济失调。

4. 发明申请

WO2017049407A1 MODIFICATION OF THE DYSTROPHIN GENE AND USES THEREOF 审中-公开
标题翻译：染色体基因的修饰及其用途
公开(公告)号：WO2017049407A1
公开(公告)日：2017-03-30
申请号：PCT/CA2016/051117
申请日：2016-09-23
申请人： UNIVERSITÉ LAVAL
发明人： TREMBLAY, Jacques P. , IYOMBE-ENGEMBE, Jean-paul , CHAPDELAINE, Pierre
IPC分类号： C12N15/113 , A61K31/7088 , A61K38/46 , A61P3/00 , C07H21/02 , C12N15/09 , C12N15/12 , C12N15/55 , C12N15/86 , C12N5/10 , C12N9/22
CPC分类号： C12N15/102 , A61K31/7088 , A61K31/7105 , A61K38/46 , A61K45/06 , C07H21/02 , C07K14/4708 , C12N9/22 , C12N15/113 , C12N15/86 , C12N2310/20 , A61K2300/00
摘要： Methods of modifying a dystrophin gene are disclosed, for restoring dystrophin expression within a cell having an endogenous frameshift mutation within the dystrophin gene. The methods comprising introducing a first cut within an exon of the dystrophin gene creating a first exon end, wherein said first cut is located upstream of the endogenous frameshift mutation; and introducing a second cut within an exon of the dystrophin gene creating a second exon end, wherein said second cut is located downstream of the frameshift mutation. Upon joining/ligation of said first and second exon ends dystrophin expression is restored, as the correct reading frame is restored. Reagents and uses of the method are also disclosed, for example to treat a subject suffering from muscular dystrophy.
摘要翻译：公开了修饰肌营养不良蛋白基因的方法，用于在肌营养不良蛋白基因内具有内源移码突变的细胞内恢复肌营养不良蛋白表达。所述方法包括在肌营养不良蛋白基因的外显子内引入第一切割，产生第一外显子末端，其中所述第一切割位于内源移码突变的上游; 以及在所述肌营养不良蛋白基因的外显子内引入第二切割，产生第二外显子末端，其中所述第二切割位于所述移码突变的下游。当所述第一和第二外显子末端的连接/连接时，恢复正常的阅读框架肌营养不良蛋白表达。还公开了该方法的试剂和用途，例如用于治疗患有肌营养不良症的受试者。

5. 发明申请

WO2015168800A1 PREVENTION AND TREATMENT OF ALZHEIMER'S DISEASE BY GENOME EDITING USING THE CRISPR/CAS SYSTEM 审中-公开
标题翻译：使用CRISPR / CAS系统进行基因组编码预防和治疗阿尔茨海默病
公开(公告)号：WO2015168800A1
公开(公告)日：2015-11-12
申请号：PCT/CA2015/050411
申请日：2015-05-08
申请人： UNIVERSITÉ LAVAL
发明人： TREMBLAY, Jacques P. , ROUSSEAU, Joël , CHAPDELAINE, Pierre
IPC分类号： C12N15/63 , A61K48/00 , A61P25/28 , C12N15/09 , C12N15/113 , C12N15/12 , C12N15/55 , C12N15/85 , C12N15/86 , C12N15/90
CPC分类号： C12N15/113 , A61K38/00 , A61K48/00 , C07K14/4711 , C12N9/22 , C12N15/102 , C12N15/63 , C12N2310/10 , C12N2310/20 , C12Q2521/301
摘要： Methods and products related to genome editing using the CRISPR/Cas9 system to introduce an A673T substitution into an APP gene, such as guide RNAs and recombinant proteins, are described for decreasing APP levels produced by a cell, and use for the treatment of Alzheimer's disease and/or age-related cognitive decline in a cell from a subject in need thereof.
摘要翻译：描述了使用CRISPR / Cas9系统将A673T替代引入APP基因（如引导RNA和重组蛋白）的基因组编辑相关的方法和产品，用于降低由细胞产生的APP水平，并用于治疗阿尔茨海默病和/或来自有需要的受试者的细胞中与年龄相关的认知衰退。

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