Li Xiaohong
Department of Neurochemistry, NY State Institute for Basic Research in Developmental Disabilities, New York, NY, USA.
Biochim Biophys Acta. 2011 Oct;1812(10):1219-24. doi: 10.1016/j.bbadis.2011.03.001. Epub 2011 Mar 15.
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease characterized by renal cyst formation and caused by mutations in the PKD1 and PKD2 genes, which encode polycystin-1(PC-1) and -2 (PC-2) proteins, respectively. PC-1 is a large plasma membrane receptor involved in the regulation of several biological functions and signaling pathways including the Wnt cascade, AP-1, PI3kinase/Akt, GSK3β, STAT6, Calcineurin/NFAT and the ERK and mTOR cascades. PC-2 is a calcium channel of the TRP family. The two proteins form a functional complex and prevent cyst formation, but the precise mechanism(s) involved remains unknown. This article is part of a Special Issue entitled: Polycystic Kidney Disease.
常染色体显性多囊肾病（ADPKD）是一种以肾囊肿形成为特征的遗传性疾病，由PKD1和PKD2基因的突变引起，这两个基因分别编码多囊蛋白-1（PC-1）和多囊蛋白-2（PC-2）。PC-1是一种大型质膜受体，参与多种生物学功能和信号通路的调节，包括Wnt级联反应、AP-1、PI3激酶/Akt、GSK3β、STAT6、钙调神经磷酸酶/NFAT以及ERK和mTOR级联反应。PC-2是瞬时受体电位（TRP）家族的一种钙通道。这两种蛋白形成一个功能复合体并防止囊肿形成，但其具体机制仍不清楚。本文是名为《多囊肾病》的特刊的一部分。
