Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS

Biallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities. While two murine models replicate the phenotypic and neur...

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Bibliographic Details
Main Authors: Valentina Naef, Devid Damiani, Rosario Licitra, Maria Marchese, Stefania Della Vecchia, Matteo Baggiani, Letizia Brogi, Daniele Galatolo, Silvia Landi, Filippo Maria Santorelli
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:Neurobiology of Disease
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Online Access:http://www.sciencedirect.com/science/article/pii/S0969996125000099
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