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Article

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Accepted version

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2020-04-10

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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/196031

By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System.

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https://doi.org/10.1007/978-3-030-38266-7_13

Abstract

Primary cilia are microtubule-based sensory organelles that are involved in the organization of numerous key signals during development and in differentiated tissue homeostasis. In fact, the formation and resorption of cilia highly depends on the cell cycle phase in replicative cells, and the ubiquitin proteasome pathway (UPS) proteins, such as E3 ligases and deubiquitinating enzymes, promote microtubule assembly and disassembly by regulating the degradation/availability of ciliary regulatory proteins. Also, many differentiated tissues display cilia, and mutations in genes encoding ciliary proteins are associated with several human pathologies, named ciliopathies, which are multi-organ rare diseases. The retina is one of the organs most affected by ciliary gene mutations because photoreceptors are ciliated cells. Photoreception and phototransduction occur in the outer segment, a highly specialized neurosensory cilium. In this review, we focus on the function of UPS proteins in ciliogenesis and cilia length control in replicative cells and compare it with the scanty data on the identified UPS genes that cause syndromic and non-syndromic inherited retinal disorders. Clearly, further work using animal models and gene-edited mutants of ciliary genes in cells and organoids will widen the landscape of UPS involvement in ciliogenesis and cilia homeostasis.

Subject

Fotoreceptors, Ubiqüitina

Subject (English)

Photoreceptors, Ubiquitin

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Articles publicats en revistes (Genètica, Microbiologia i Estadística)

Citation

TOULIS, Vasileios and MARFANY I NADAL, Gemma. By the Tips of Your Cilia: Ciliogenesis in the Retina and the Ubiquitin-Proteasome System. Advances in Experimental Medicine and Biology. 2020. Vol. 1233, num. 303-310. ISSN 0065-2598. [consulted: 16 of August of 2026]. Available at: https://hdl.handle.net/2445/196031

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