Article

Dysregulated nuclear Lamin B1 in DYT1 dystonia thickens the nuclear lamina and disrupts 14-3-3 proteins

2025-07-11

Abstract excerpt

<h4>SUMMARY</h4> Childhood-onset DYT1 dystonia is caused by a heterozygous ΔE mutation in the TOR1A gene, which encodes a membrane-embedded AAA+ (ATPase Associated with diverse cellular Activities) ATPase. However, the mechanism by which ΔE induces dystonia remains poorly understood. Previously, using patient-derived neurons, we identified dysregulation of nuclear Lamin B1, at both expression levels and subcellu...

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Literature Corpus work: e02fdd8b-138d-5817-9e66-dfeca24a5bf3
DOI: 10.1101/2025.07.09.662391

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