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J. Latham

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Open access Aug 2026

Domain-dependent uncoupling of the co-chaperone and E3 ubiquitin ligase CHIP underlies heterogeneity in spinocerebellar ataxia 48.

Analysis of SCA48-associated variants spanning the TPR and U-box domains indicates that SCA48 results from domain-specific disruption of CHIP's dual functions, producing varying degrees of CHIP insufficiency and/or gain-of-toxic effects that together contribute to the phenotypic diversity observed across patients.

S. Altinok, E. Paulakonis, Michael F. Almeida et al. · 0 citations