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Article

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

Proceedings of the National Academy of Sciences of the United States of America - 20 Jan 2004

Goodchild Rose E, Dauer William T

Abstract excerpt

Primary dystonia is a disease characterized by involuntary twisting movements caused by CNS dysfunction without underlying histopathology. DYT1 dystonia is a form of primary dystonia caused by an in-frame GAG deletion (DeltaE302/3) in the TOR1A gene that encodes the endoplasmic reticulum luminal protein torsinA. We show that torsinA is also present in the nuclear envelope (NE), where it appears to interact with...

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Identifiers

PMID: 14711988
DOI: 10.1073/pnas.0304375101
PMCID: PMC321769

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.PMID 14711988Read ↗

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