Article
Transport function of the naturally occurring pathogenic polycystin-2 mutant, R742X.
Biochemical and biophysical research communications - 20 Apr 2001
Chen X Z, Segal Y, Basora N, Guo L, Peng J B, Babakhanlou H, Vassilev P M, Brown E M, Hediger M A, Zhou J
Abstract excerpt
Most patients with autosomal dominant polycystic kidney disease (ADPKD) harbor mutations truncating polycystin-1 (PC1) or polycystin-2 (PC2), products of the PKD1 and PKD2 genes, respectively. A third member of the polycystin family, polycystin-L (PCL), was recently shown to function as a Ca(2+)-modulated nonselective cation channel. More recently, PC2 was also shown to be a nonselective cation channel with...
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