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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MDPI AG
2021-11-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/22/12253 |
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| 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 |
| collection | DOAJ |
| 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. |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T05:26:27Z |
| publishDate | 2021-11-01 |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-46be6b021cb34e0fa7a5888b9c5443912023-11-22T23:39:24ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-11-0122221225310.3390/ijms222212253The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and CiliogenesisFatma Mansour0Felix J. Boivin1Iman B. Shaheed2Markus Schueler3Kai M. Schmidt-Ott4Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, 10117 Berlin, GermanyDepartment of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, 10117 Berlin, GermanyDepartment of Pathology, Faculty of Veterinary Medicine, Cairo University, 12613 Giza, EgyptDepartment of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, 10117 Berlin, GermanyDepartment of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, 10117 Berlin, GermanyThe 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.https://www.mdpi.com/1422-0067/22/22/12253distal appendagescentrosomeciliogenesistransition fibersnephronophthisis |
| spellingShingle | 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 International Journal of Molecular Sciences distal appendages centrosome ciliogenesis transition fibers nephronophthisis |
| title | 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_short | 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 |
| topic | distal appendages centrosome ciliogenesis transition fibers nephronophthisis |
| url | https://www.mdpi.com/1422-0067/22/22/12253 |
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