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是否是时候将囊肿切除?

Is it Time to Fold the Cysts Away?

机构信息

Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.

Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.

出版信息

Trends Mol Med. 2016 Dec;22(12):997-999. doi: 10.1016/j.molmed.2016.10.001. Epub 2016 Oct 25.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2, encoding polycystin-1 and polycystin-2, respectively. Optimizing the folding environment for polycystin-1 missense mutations may have a critical effect on the progression of ADPKD in animal models and could potentially lead to tangible therapeutic options for subgroups of ADPKD patients.

摘要

常染色体显性多囊肾病(ADPKD)是由 PKD1 和 PKD2 基因突变引起的,分别编码多囊蛋白-1 和多囊蛋白-2。优化多囊蛋白-1 错义突变的折叠环境可能对动物模型中 ADPKD 的进展产生关键影响,并可能为 ADPKD 患者的亚组带来切实可行的治疗选择。

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