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Journal Article
Review
Functional Study of the Primary Cilia in ADPKD.
The primary cilium is a microtubule-based organelle that is considered to be a cellular antennae, because proteins related to multiple signaling pathways such as Wnt, PDGFRα, Hh, and mechanosignaling are localized to the membrane of the primary cilium. In the kidney, primary cilia extend from the cell membrane to the lumen of renal tubules to respond to fluidic stress. Recent studies have indicated that the disruption of ciliary proteins including polycystin-1 (PC1), polycystin-2 (PC2), and members of the intraflagellar transport (IFT) family induce the development of polycystic kidney disease (PKD), suggesting that the malformation or absence of primary cilia is a driving force of the onset of PKD. Therefore, in this chapter, the renal cystogenesis mechanism induced by cilia defects and pathogenic ciliary proteins associated with PKD development will be described.
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