专利快速检索-快速检索全球专利，免费商用专利数据库-IPRDB

1. 发明公开

EP3012321A1 HUMAN CELL MODEL OF GM1 GANGLIOSIDOSIS AND USE OF SAME 失效
标题翻译：男子名人赛尔莫迪尔FÜRGM1-GANGLIOSIDOSE UND VERWENDUNG DAVON
公开(公告)号：EP3012321A1
公开(公告)日：2016-04-27
申请号：EP14880388.5
申请日：2014-11-20
申请人： Korea Research Institute of Bioscience and Biotechnology
发明人： CHO, Yee Sook , SON, Mi Young , KWAK, Jae Eun , SEOL, Binna , JEON, Hye Jin
IPC分类号： C12N5/074 , C12N5/073 , C12N5/079 , A61K38/55 , A61P21/00
CPC分类号： C07K14/4703 , A61K38/55 , C07K5/0202 , C07K5/0812 , C12N5/0619 , C12N5/0656 , C12N5/0696 , C12N2501/2301 , C12N2501/602 , C12N2501/603 , C12N2501/604 , C12N2501/606 , C12N2501/70 , C12N2501/999 , C12N2506/1307 , C12N2506/45 , C12N2510/00 , G01N33/5023
摘要： The present invention relates to a method for preparing a GM1 gangliosidosis human cell model based on induced pluripotent stem cells (iPSCs) and iPSCs originated neural progenitor cells, and a use of the GM1 model above for the development of a GM1 gangliosidosis treating agent. The iPSCs originated from GM1 patient fibroblasts can be differentiated into neural progenitor cells (NPCs) and neurosphere cells that can emulate the characteristics shown in GM1 patient, so that the said cells can be efficiently used for the investigation of intracellular GM1 symptoms such as the GM1 gangliosidosis and lysosome accumulation and the gene expression pattern change. So, the GM1 cell model of the present invention can be efficiently used for the study of GM1 development mechanism and the study for the development of a therapeutic agent for the disease. The present inventors also established the inflammasome inhibitor rhIL1RA or Z-YVAD-FMK by using the above GM1 cell model and further confirmed that it can be efficiently used as a relieving/treating agent of GM1 gangliosidosis.
In addition, the molecular symptoms of GM1 patient could be reproduced in the transformed cells having the E186A mutation which is newly identified as the GM1 gangliosidosis causing protein mutation. Therefore, the mutant cells containing the induced E186A mutation can be efficiently used as the GM1 gangliosidosis cell model.
摘要翻译：本发明涉及一种基于诱导多能干细胞（iPSCs）和iPSCs起源的神经祖细胞制备GM1神经节苷脂病人类细胞模型的方法，以及上述GM1模型用于开发GM1神经节苷脂治疗药物的方法。源自GM1患者成纤维细胞的iPSCs可以分化成可以模拟GM1患者特征的神经祖细胞（NPC）和神经球细胞，使得所述细胞可以有效地用于研究细胞内GM1症状，如GM1 神经节苷脂和溶酶体积累和基因表达模式发生变化。因此，本发明的GM1细胞模型可以有效地用于研究GM1发育机制和研究用于疾病治疗剂的研究。本发明人还通过使用上述GM1细胞模型建立了炎性体抑制剂rhIL1RA或Z-YVAD-FMK，并进一步证实可以有效地用作GM1神经节苷脂的缓解/治疗剂。此外，GM1患者的分子症状可以在具有新鉴定为导致蛋白质突变的GM1神经节苷脂病的E186A突变的转化细胞中复制。因此，含有诱导的E186A突变的突变细胞可以有效地用作GM1神经节苷脂细胞模型。

IPRDB

热门服务

关于我们

友情链接

联系方式