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Title: The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3
Author: Sánchez-Bellver, Laura
Férriz-Gordillo, Andrea
Carrillo-Pz, Marc
Rabanal, Laura
Garcia-Gonzalo, Francesc R.
Marfany i Nadal, Gemma
Keywords: Retina
Malalties de la retina
Retinal diseases
Issue Date: 19-Oct-2022
Publisher: MDPI
Abstract: Proteins related to the ubiquitin-proteasome system play an important role during the differentiation and ciliogenesis of photoreceptor cells. Mutations in several genes involved in ubiquitination and proteostasis have been identified as causative of inherited retinal dystrophies (IRDs) and ciliopathies. USP48 is a deubiquitinating enzyme whose role in the retina is still unexplored although previous studies indicate its relevance for neurosensory organs. In this work, we describe that a pool of endogenous USP48 localises to the basal body in retinal cells and provide data that supports the function of USP48 in the photoreceptor cilium. We also demonstrate that USP48 interacts with the IRD-associated proteins ARL3 and UNC119a, and stabilise their protein levels using different mechanisms. Our results suggest that USP48 may act in the regulation/stabilisation of key ciliary proteins for photoreceptor function, in the modulation of intracellular protein transport, and in ciliary trafficking to the photoreceptor outer segment.
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It is part of: International Journal of Molecular Sciences, 2022, vol. 23, num. 20, p. 12527
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ISSN: 1661-6596
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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