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, I W Hwang, Rebekah Sanchez‐Hodge, Christina D’Ovidio, Georgia Roper, Grant Irons, Elena Vargas, I.-Wen Peng, Morcos Saeed, Aliyaa Pathan, Sarah M. Ronnebaum, Change-he Shi, Mark John Ranek, , 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.
bioRxiv · Nov 26, 2025 · PreprintNeuroscience