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Article

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope.

Neuron - 22 Dec 2005

Goodchild Rose E, Kim Connie Eunji, Dauer William T

Abstract excerpt

An enigmatic feature of many genetic diseases is that mutations in widely expressed genes cause tissue-specific illness. One example is DYT1 dystonia, a neurodevelopmental disease caused by an in-frame deletion (Deltagag) in the gene encoding torsinA. Here we show that neurons from both torsinA null (Tor1a(-/-)) and homozygous disease mutant "knockin" mice (Tor1a(Deltagag/Deltagag)) contain severely abnormal...

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Identifiers

PMID: 16364897
DOI: 10.1016/j.neuron.2005.11.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope.PMID 16364897Read ↗

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