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Article

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.

Human molecular genetics - 22 May 2000

Hewett J, Gonzalez-Agosti C, Slater D, Ziefer P, Li S, Bergeron D, Jacoby D J, Ozelius L J, Ramesh V, Breakefield X O

Abstract excerpt

Early-onset torsion dystonia is a hereditary movement disorder thought to be caused by decreased release of dopamine into the basal ganglia, without apparent neuronal degeneration. Recent cloning of the gene responsible for this disease, TOR1A (DYT1), identified the encoded protein, torsinA, as a...

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Identifiers

PMID: 10814722
DOI: 10.1093/hmg/9.9.1403

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CAD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10814722-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.PMID 10814722Read ↗

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Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.Semantic proximity Read ↗

Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.Semantic proximity Read ↗

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.Semantic proximity Read ↗

Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations.Semantic proximity Read ↗

The role of torsinA in dystonia.Semantic 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 ↗

The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.Semantic proximity Read ↗

Recombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant Delta E-torsinA.Semantic proximity Read ↗

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress responseSemantic proximity Read ↗

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