The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis

The primary cilium is found in most mammalian cells and plays a functional role in tissue homeostasis and organ development by modulating key signaling pathways. Ciliopathies are a group of genetically heterogeneous disorders resulting from defects in cilia development and function. Patients with ci...

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Autores principales:	Fatma Mansour, Felix J. Boivin, Iman B. Shaheed, Markus Schueler, Kai M. Schmidt-Ott
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	distal appendages centrosome ciliogenesis transition fibers nephronophthisis Biology (General) QH301-705.5 Chemistry QD1-999
Acceso en línea:	https://doaj.org/article/46be6b021cb34e0fa7a5888b9c544391
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spelling	oai:doaj.org-article:46be6b021cb34e0fa7a5888b9c5443912021-11-25T17:54:45ZThe Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis10.3390/ijms2222122531422-00671661-6596https://doaj.org/article/46be6b021cb34e0fa7a5888b9c5443912021-11-01T00:00:00Zhttps://www.mdpi.com/1422-0067/22/22/12253https://doaj.org/toc/1661-6596https://doaj.org/toc/1422-0067The primary cilium is found in most mammalian cells and plays a functional role in tissue homeostasis and organ development by modulating key signaling pathways. Ciliopathies are a group of genetically heterogeneous disorders resulting from defects in cilia development and function. Patients with ciliopathic disorders exhibit a range of phenotypes that include nephronophthisis (NPHP), a progressive tubulointerstitial kidney disease that commonly results in end-stage renal disease (ESRD). In recent years, distal appendages (DAPs), which radially project from the distal end of the mother centriole, have been shown to play a vital role in primary ciliary vesicle docking and the initiation of ciliogenesis. Mutations in the genes encoding these proteins can result in either a complete loss of the primary cilium, abnormal ciliary formation, or defective ciliary signaling. DAPs deficiency in humans or mice commonly results in NPHP. In this review, we outline recent advances in our understanding of the molecular functions of DAPs and how they participate in nephronophthisis development.Fatma MansourFelix J. BoivinIman B. ShaheedMarkus SchuelerKai M. Schmidt-OttMDPI AGarticledistal appendagescentrosomeciliogenesistransition fibersnephronophthisisBiology (General)QH301-705.5ChemistryQD1-999ENInternational Journal of Molecular Sciences, Vol 22, Iss 12253, p 12253 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	distal appendages centrosome ciliogenesis transition fibers nephronophthisis Biology (General) QH301-705.5 Chemistry QD1-999
spellingShingle	distal appendages centrosome ciliogenesis transition fibers nephronophthisis Biology (General) QH301-705.5 Chemistry QD1-999 Fatma Mansour Felix J. Boivin Iman B. Shaheed Markus Schueler Kai M. Schmidt-Ott The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis
description	The primary cilium is found in most mammalian cells and plays a functional role in tissue homeostasis and organ development by modulating key signaling pathways. Ciliopathies are a group of genetically heterogeneous disorders resulting from defects in cilia development and function. Patients with ciliopathic disorders exhibit a range of phenotypes that include nephronophthisis (NPHP), a progressive tubulointerstitial kidney disease that commonly results in end-stage renal disease (ESRD). In recent years, distal appendages (DAPs), which radially project from the distal end of the mother centriole, have been shown to play a vital role in primary ciliary vesicle docking and the initiation of ciliogenesis. Mutations in the genes encoding these proteins can result in either a complete loss of the primary cilium, abnormal ciliary formation, or defective ciliary signaling. DAPs deficiency in humans or mice commonly results in NPHP. In this review, we outline recent advances in our understanding of the molecular functions of DAPs and how they participate in nephronophthisis development.
format	article
author	Fatma Mansour Felix J. Boivin Iman B. Shaheed Markus Schueler Kai M. Schmidt-Ott
author_facet	Fatma Mansour Felix J. Boivin Iman B. Shaheed Markus Schueler Kai M. Schmidt-Ott
author_sort	Fatma Mansour
title	The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis
title_short	The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis
title_full	The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis
title_fullStr	The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis
title_full_unstemmed	The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis
title_sort	role of centrosome distal appendage proteins (daps) in nephronophthisis and ciliogenesis
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/46be6b021cb34e0fa7a5888b9c544391
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The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis

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