Article
Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.
The Journal of biological chemistry - 20 Nov 2009
Ma Liang, Xu Meixiang, Forman Julia R, Clarke Jane, Oberhauser Andres F
Abstract excerpt
Mutations in polycystin-1 (PC1) can cause autosomal dominant polycystic kidney disease, which is a leading cause of renal failure. The available evidence suggests that PC1 acts as a mechanosensor, receiving signals from the primary cilia, neighboring cells, and extracellular matrix. PC1 is a larg...
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