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