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Title: The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina
Author: Toulis, Vasileios
Garcia Monclús, Silvia
de la Peña-Ramírez, Carlos
Arenas-Galnares, Rodrigo
Abril Ferrando, Josep Francesc, 1970-
Todi, Sokol V.
Khan, Naheed
Garanto, Alejandro
Costa, Maria do Carmo
Marfany i Nadal, Gemma
Keywords: Manifestacions neurològiques de les malalties
Malalties rares
Neurologic manifestations of general diseases
Rare diseases
Issue Date: Nov-2020
Publisher: Elsevier
Abstract: Expansion of a CAG repeat in ATXN3 causes the dominant polyglutamine disease spinocerebellar ataxia type 3 (SCA3), yet the physiological role of ATXN3 remains unclear. Here, we focus on unveiling the function of Ataxin-3 (ATXN3) in the retina, a neurological organ amenable to morphological and physiological studies. Depletion of Atxn3 in zebrafish and mice causes morphological and functional retinal alterations and, more precisely, photoreceptor cilium and outer segment elongation, cone opsin mislocalization, and cone hyperexcitation. ATXN3 localizes at the basal body and axoneme of the cilium, supporting its role in regulating ciliary length. Abrogation of Atxn3 expression causes decreased levels of the regulatory protein KEAP1 in the retina and delayed phagosome maturation in the retinal pigment epithelium. We propose that ATXN3 regulates two relevant biological processes in the retina, namely, ciliogenesis and phagocytosis, by modulating microtubule polymerization and microtubule-dependent retrograde transport, thus positing ATXN3 as a causative or modifier gene in retinal/macular dystrophies.
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It is part of: Cell Reports, 2020, vol. 33, num. 6, p. 108360
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ISSN: 2211-1247
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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