A novel gene therapy for pyruvate kinase deficiency.

一种针对丙酮酸激酶缺乏症的新型基因疗法。

• 批准号: 20591264
• 负责人: UTSUGISAWA Taiju
• 金额: $ 3万
• 依托单位: Tokyo Women's Medical University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20591264/
• 关键词: 遺伝子治療; PK異常症; レンチウイルスベクター; ピルビン酸キナーゼ異常症; siRNA

To establish effective hematopietic stem cell targeted gene therapy for pyruvate kinase (PK) deficiency, we generated a lentiviral vector based on a novel strategy. The lentiviral vector is capable of dual expression of short interfering RNA (siRNA) against mutated mRNA and siRNA resistant wild type PK mRNA, resulted in substitution of abnormal PK for the normal enzyme in vivo.

为了建立有效的造血干细胞靶向基因治疗丙酮酸激酶（PK）缺乏症，我们产生了一个慢病毒载体的基础上的一种新的策略。慢病毒载体能够双重表达针对突变mRNA的短干扰RNA（siRNA）和siRNA抗性野生型PK mRNA，导致体内异常PK取代正常酶。

项目成果

Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia

• DOI: 10.1634/stemcells.2007-0569
• 发表时间: 2008-02-01
• 期刊: STEM CELLS
• 影响因子: 5.2
• 作者: Miyake, Koich;Utsugisawa, Taiju;Karlsson, Stefan
• 通讯作者: Karlsson, Stefan