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Keywords: Dystonia
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Journal Articles
J Cell Sci (2015) 128 (15): 2854–2865.
Published: 1 August 2015
... torsin. We then used FLAG–TM–torsinA–mGFP reporters to ask whether torsinA in the nuclear envelope is on the ONM or INM. We first examined the distribution of reporter containing the DYT1 dystonia ΔE302/3 mutation. This mutation removes one of a pair of glutamic acid residues from a C-terminal...
Includes: Supplementary data
Journal Articles
J Cell Sci (2008) 121 (20): 3476–3486.
Published: 15 October 2008
...Flávia C. Nery; Juan Zeng; Brian P. Niland; Jeffrey Hewett; Jonathan Farley; Daniel Irimia; Yuqing Li; Gerhard Wiche; Arnoud Sonnenberg; Xandra O. Breakefield A specific mutation (ΔE) in torsinA underlies most cases of the dominantly inherited movement disorder, early-onset torsion dystonia (DYT1...
Includes: Supplementary data
Journal Articles