Article
A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD.
Human molecular genetics - 1 Oct 2018
Parnell Stephen C, Magenheimer Brenda S, Maser Robin L, Pavlov Tengis S, Havens Mallory A, Hastings Michelle L, Jackson Stephen F, Ward Christopher J, Peterson Kenneth R, Staruschenko Alexander, Calvet James P
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeable receptor-channel complex; however the mechanisms by which they function are almost completely unknown. Most...
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