Ontology highlight
ABSTRACT:
SUBMITTER: Francis V
PROVIDER: S-EPMC9437860 | biostudies-literature | 2022 Sep
REPOSITORIES: biostudies-literature
Francis Vincent V Alshafie Walaa W Kumar Rahul R Girard Martine M Brais Bernard B McPherson Peter S PS
The Journal of biological chemistry 20220804 9
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a fatal brain disorder featuring cerebellar neurodegeneration leading to spasticity and ataxia. This disease is caused by mutations in the SACS gene that encodes sacsin, a massive 4579-amino acid protein with multiple modular domains. However, molecular details of the function of sacsin are not clear. Here, using live cell imaging and biochemistry, we demonstrate that sacsin binds to microtubules and regulates microtubule dynamics. Los ...[more]