A polycystin-centric view of cyst formation and disease: the polycystins revisited.
A polycystin-centric view of cyst formation and disease: the polycystins revisited.
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DOI：
10.1038/ki.2015.207
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发表时间：
2015-10
影响因子：
19.6
通讯作者：
Harris PC
中科院分区：
文献类型：
--
作者：
Ong AC;Harris PC
PKD1是常染色体显性遗传性多囊肾病(ADPKD)的主要突变基因，它的发现距今已有20年，紧随其后的是PKD2的克隆。这些重大突破反过来又导致了对多囊蛋白-1和多囊蛋白-2这两种编码蛋白的功能以及这两种蛋白的缺陷如何导致囊性形成和非肾脏表型的深入研究。在这篇综述中，我们总结了这一领域的主要发现，并提出了一个多囊蛋白在健康和疾病中如何发挥作用的当前模型。
It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into the function of the two proteins encoded, polycystin-1 and polycystin-2 and how defects in either protein lead to cyst formation and non-renal phenotypes. In this review, we summarise the major findings in this area and present a current model of how the polycystin proteins function in health and disease.