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Lookup NU author(s): Dr Laura Devlin, Professor John SayerORCiD
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© 2025Primary cilia are essential cellular organelles with pivotal roles in many signalling pathways. Here we provide an overview of the role of primary cilia within the kidney, starting with primary ciliary structure and key protein complexes. We then highlight the specialised functions of primary cilia, emphasising their role in a group of diseases known as renal ciliopathies. These conditions include forms of polycystic kidney disease, nephronophthisis, and other syndromic ciliopathies, such as Joubert syndrome and Bardet-Biedl syndrome. We explore models of renal ciliopathies, both in vitro and in vivo, shedding light on the molecular mechanisms underlying these diseases including Wnt and Hedgehog signalling pathways, inflammation, and cellular metabolism. Finally, we discuss therapeutic approaches, from current treatments to cutting-edge preclinical research and clinical trials.
Author(s): Devlin LA, Dewhurst RM, Sudhindar PD, Sayer JA
Publication type: Book Chapter
Publication status: Published
Book Title: Current Topics in Developmental Biology
Year: 2025
Volume: 163
Pages: 229-305
Online publication date: 18/03/2025
Acceptance date: 18/03/2025
Publisher: Academic Press Inc.
URL: https://doi.org/10.1016/bs.ctdb.2025.01.009
DOI: 10.1016/bs.ctdb.2025.01.009
