The Function and Role of the Cilium in the Development of Ciliopathies

Abstract

Abstract“Ciliopathies” are a group of genetic disorders described by the malformation or dysfunction of cilia. The disorders of ciliary proteins lead to a range of phenotype from organ-specific (e.g., cystic disease of the kidney, liver, and pancreas, neural tube defects, postaxial polydactyly, situs inversus, and retinal degeneration) to sketchily pleiotropic (e.g., Bardet-Biedl syndrome and Joubert syndrome). The mechanism below the disfunction of cilia to reach new therapeutic strategies.