Mutant torsinA, which causes early-onset
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Anjum Misbahuddin; Mark R. Placzek; Jan-Willem Taanman; Steve Gschmeissner; Giam
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Article
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2005
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John Wiley and Sons
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English
β 423 KB
## Abstract A single GAG deletion in the __DYT1__ gene causes primary earlyβonset, generalized torsion dystonia. The __DYT1__ protein product, torsinA, belongs to the AAA+ family of proteins. When overexpressed, wildβtype torsinA localizes mainly to the endoplasmic reticulum, whereas the mutant for