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Article

Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA

16 Dec 2009

Abstract excerpt

A three base-pair deletion in the widely expressed TOR1A gene causes the childhood onset, neurological disease of DYT1 dystonia. Mouse Tor1a gene knockout also specifically affects the developing nervous system. However, in both cases, the basis of neuronal tissue specificity is unknown. TorsinA is one of four predicted mammalian torsin ATPases associated with assorted cellular activities (AAA+) proteins, raising...

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PMID: 20015956
DOI: 10.1093/hmg/ddp557

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Related research

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Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinAPMID 20015956Read ↗

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

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

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LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation.Semantic proximity Read ↗

Torsins: not your typical AAA+ ATPases.Semantic proximity Read ↗

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