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Article

A molecular mechanism underlying the neural-specific defect in torsinA mutant mice.

Proceedings of the National Academy of Sciences of the United States of America - 25 May 2010

Kim Connie E, Perez Alex, Perkins Guy, Ellisman Mark H, Dauer William T

Abstract excerpt

A striking but poorly understood feature of many diseases is the unique involvement of neural tissue. One example is the CNS-specific disorder DYT1 dystonia, caused by a 3-bp deletion ("DeltaE") in the widely expressed gene TOR1A. Disease mutant knockin mice (Tor1a(DeltaE/DeltaE)) exhibit disrupt...

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Identifiers

PMID: 20457914
DOI: 10.1073/pnas.0912877107
PMCID: PMC2906867

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20457914-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A molecular mechanism underlying the neural-specific defect in torsinA mutant mice.PMID 20457914Read ↗

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