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Article

Characterization of human torsinA and its dystonia-associated mutant form.

The Biochemical journal - 15 Aug 2003

Liu Zhonghua, Zolkiewska Anna, Zolkiewski Michal

Abstract excerpt

Deletion of a single glutamate in torsinA correlates with early-onset dystonia, the most severe form of a neurological disorder characterized by uncontrollable muscle contractions. TorsinA is targeted to the ER (endoplasmic reticulum) in eukaryotic cells. We investigated the processing and membrane association of torsinA and the dystonia-associated Glu-deletion mutant (torsinAdeltaE). We found that the signal...

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Identifiers

PMID: 12780349
DOI: 10.1042/BJ20030258
PMCID: PMC1223590

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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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Characterization of human torsinA and its dystonia-associated mutant form.PMID 12780349Read ↗

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TorsinA and dystonia: from nuclear envelope to synapseSemantic proximity Read ↗

Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant.Semantic proximity Read ↗

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