Dystonia-associated TorsinA-ΔE mutation induces a gain-of-function interaction with XPO1 via its N-terminal hydrophobic segment
Haochen Cui, Yuntian Duan, Md Kobirul Islam, Md Abir Hosain, Jiyu Li, Xiaohong Lu, Baojin Ding
This study identifies an aberrant gain-of-function interaction between TorsinA-ΔE and XPO1 as a mechanism contributing to nucleocytoplasmic transport dysfunction in DYT1 dystonia.
bioRxiv · Aug 21, 2026 · PreprintNeuroscience