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DOI: 10.1055/s-0042-1759533
The Function and Role of the Cilium in the Development of Ciliopathies
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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.
Authors' Contributions
A.M. and I.C. conceptualized the study. C.C. and A.C. contributed to investigation. G.C. provided resources. E.G. and A.S. helped in data curation. M.F. and L.Z. helped in writing-original draft preparation. G.F. and G.N. contributed to writing, review, and editing. G.C. and G.I. supervised the study.
All authors have read and agreed to the published version of the manuscript.
Data Availability Statement
The data presented in this study are available on request from the corresponding author.
Publication History
Received: 23 August 2022
Accepted: 27 October 2022
Article published online:
05 December 2022
© 2022. Thieme. All rights reserved.
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