Article

HDAC inhibitor SAHA resolved intermediate filament bundling and defective autophagy caused by the lack of sacsin in ARSACS.

2024-08-17

Abstract excerpt

<title>Abstract</title> <p>Autosomal recessive spastic ataxia of the Charlevoix-Saguenay (ARSACS) is a progressive childhood-onset neurological disease caused by loss-of-function mutations in the SACS gene. This condition is characterized by cerebellar ataxia, peripheral neuropathy, and spastic plasticity. ARSACS patient-derived fibroblasts and mouse models lacking sacsin exhibit altered mitochondrial networks, i...

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Literature Corpus work: c15938a7-89d2-577e-9b62-fda6f3fc774b
DOI: 10.21203/rs.3.rs-4745938/v1

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