Article

Domain-specific decoupling of co-chaperone and ligase functions in <i>STUB1</i> underlies biochemical and clinical heterogeneity in SCA48

2025-11-30

Abstract excerpt

<h4> A bstract </h4> The carboxyl terminus of HSC70-interacting protein (CHIP, encoded by STUB1 ) integrates co-chaperone and E3 ubiquitin ligase activities to maintain proteostasis. Heterozygous STUB1 mutations cause the dominant cerebellar ataxia SCA48 through incompletely understood mechanisms. We characterized 13 SCA48-associated variants in the TPR and U-box domains using recombinant protein and cellular...

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Literature Corpus work: a1f00bbb-1588-575d-bbb8-9a5dd9b9959e
DOI: 10.1101/2025.11.26.690709

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