NeurosciencebioRxivPreprint
Domain-specific decoupling of co-chaperone and ligase functions in STUB1 underlies biochemical and clinical heterogeneity in SCA48
Selin Altınok, Ethan Paulаkonis, Michael Fernandes de Almeida…·Jonathan Cummings Schisler
This study identifies how STUB1 mutations in SCA48 disrupt co-chaperone and ligase functions in a domain-specific manner, leading to clinical heterogeneity.
DOI 10.1101/2025.11.26.690709