Author

Xiao-Hong Lu

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Open access Aug 2026

Dystonia-associated TorsinA-ΔE mutation induces a gain-of-function interaction with XPO1 via its N-Terminal hydrophobic segment

Proteomic analysis of induced human motor neurons revealed a markedly enhanced association between ΔE and exportin 1 (XPO1), a major nuclear export receptor, and an abnormally enhanced interaction between mutant TorsinA and exportin 1 (XPO1), a protein that transports cargo from the nucleus.

Haochen Cui, Yun-Tian Duan, Md Kobirul Islam et al. · bioRxiv · 0 citations