本文构建 Atp7b R780L 敲入小鼠模型,探究 AAV8-ΔC4ATP7B 基因疗法对 Wilson 病的疗效与安全性。 一、引言 Wilson 病(WD;OMIM 277900)是一种常染色体隐性遗传疾病,由铜转运 ATP 酶 β(ATP7B)基因突变引起。ATP7B基因突变导致 ATP7B 蛋白缺乏,使得铜(Cu)在肝脏、大脑 ...
Our previous and current studies have utilized a mouse model for Wilson’s disease (Atp7b-/-mouse). Wilson’s disease results from mutations in the Atp7b transporter, which leads to excessive hepatic ...