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Journal of Pediatric Neurology 2023; 21(01): 078-084
DOI: 10.1055/s-0042-1759533
Review Article

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

Alessio Mancuso 
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Pediatric Emergency, University of Messina, Messina, Italy
,
Ida Ceravolo
2   Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
,
Caterina Cuppari
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Pediatric Emergency, University of Messina, Messina, Italy
,
Alessia Sallemi
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Pediatric Emergency, University of Messina, Messina, Italy
,
Monica Fusco
1   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Pediatric Emergency, University of Messina, Messina, Italy
,
Antonio Ceravolo
3   Pediatrician, Cinquefrondi (RC), Italy
,
Giovanni Farello
4   Pediatric Clinic–Department of Life, Health and Environmental Sciences–Piazzale Salvatore, Coppito (AQ), Italy
,
Giulia Iapadre
5   Department of Pediatrics, University of L'Aquila, Via Vetoio, 1. Coppito, 67100 L'Aquila, Italy
,
Luca Zagaroli
5   Department of Pediatrics, University of L'Aquila, Via Vetoio, 1. Coppito, 67100 L'Aquila, Italy
,
Giuliana Nanni
5   Department of Pediatrics, University of L'Aquila, Via Vetoio, 1. Coppito, 67100 L'Aquila, Italy
,
Giovanni Conti
6   Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” Unit of Pediatric Nephrology and Rheumatology, University of Messina, Messina, Italy
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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.

Keywords

cilium - ciliopathies - Joubert syndrome

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.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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