Article
The nuclear envelope localization of DYT1 dystonia torsinA-ΔE requires the SUN1 LINC complex component.
BMC cell biology - 31 May 2011
Jungwirth Michael T, Kumar Dhivya, Jeong Danielle Y, Goodchild Rose E
Abstract excerpt
BACKGROUND: DYT1 dystonia is an autosomal dominant neurological condition caused by a mutation that removes a single glutamic acid residue (ΔE) from the torsinA (torA) AAA+ protein. TorA appears to possess a nuclear envelope (NE) localized activity that requires Lamina-Associated-Polypeptide 1 (LAP1), which is an inner nuclear membrane localized torA-binding partner. Although hypoactive, the DYT1 dystonia torA-ΔE...
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