Article

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

2026-08-21

Abstract excerpt

Childhood-onset DYT1 dystonia is a neurodevelopmental movement disorder caused by a three-base-pair deletion (ΔGAG; ΔE) in the TOR1A gene, which encodes TorsinA, a membrane-associated AAA+ (ATPase associated with diverse cellular activities) ATPase. However, the mechanisms by which the ΔE mutation causes neuronal dysfunction remain poorly understood. Using patient-derived neurons, we previously demonstrated that T...

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Literature Corpus work: f23dfd69-8af2-5e83-87ac-c2bd055f3e7c
DOI: 10.64898/2026.08.17.745292

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Dystonia-associated TorsinA-ΔE mutation induces a gain-of-function interaction with XPO1 via its N-terminal hydrophobic segmentDOI 10.64898/2026.08.17.745292Read

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