Article
TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.
Journal of cell science - 15 Oct 2008
Nery Flávia C, Zeng Juan, Niland Brian P, Hewett Jeffrey, Farley Jonathan, Irimia Daniel, Li Yuqing, Wiche Gerhard, Sonnenberg Arnoud, Breakefield Xandra O
Abstract excerpt
A specific mutation (DeltaE) in torsinA underlies most cases of the dominantly inherited movement disorder, early-onset torsion dystonia (DYT1). TorsinA, a member of the AAA+ ATPase superfamily, is located within the lumen of the nuclear envelope (NE) and endoplasmic reticulum (ER). We investigated an association between torsinA and nesprin-3, which spans the outer nuclear membrane (ONM) of the NE and links it to...
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