公开(公告)号：US20140039037A1

公开(公告)日：2014-02-06

申请号：US14047876

申请日：2013-10-07

申请人： ACADEMISCH ZIEKENHUIS LEIDEN H.O.D.N. LUMC

发明人： WIHELMINA M. C. VAN ROON-MOM ,  MELVIN MAURICE EVERS ,  BARRY ANTONIUS PEPERS ,  ANNEMIEKE AARTSMA-RUS ,  GARRIT-JAN BOUDEWIJN VAN OMMEN

IPC分类号： C12N15/113

CPC分类号： C12N15/1137 ,  C12N15/111 ,  C12N15/113 ,  C12N2310/11 ,  C12N2310/315 ,  C12N2310/321 ,  C12N2310/346 ,  C12N2320/33 ,  C12Y304/19012 ,  C12N2310/3521

摘要： Described are methods for removing a proteolytic cleavage site, the HCHWA-D mutation or the amino acids encoded by a trinucleotide repeat expansion from a protein comprising providing a cell that expresses pre-mRNA encoding the protein with an anti-sense oligonucleotide that induces skipping of the exonic sequence that comprises the proteolytic cleavage site, HCHWA-D mutation or trinucleotide repeat expansion, respectively, the method further comprising allowing translation of mRNA produced from the pre-mRNA.

摘要翻译： 描述了去除蛋白水解切割位点，HCHWA-D突变或由来自蛋白质的三核苷酸重复扩增编码的氨基酸的方法，包括使用诱导跳跃的反义寡核苷酸提供表达编码蛋白质的mRNA前体的细胞 分别包含蛋白水解切割位点，HCHWA-D突变或三核苷酸重复扩增的外显子序列，所述方法还包括允许由mRNA产生的mRNA的翻译。