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Keywords: TorsinA
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Journal Articles
In collection:
Drug Discovery
Dis Model Mech (2017) 10 (9): 1129–1140.
Published: 1 September 2017
...-onset torsion dystonia (EOTD). The best studied and validated EOTD-associated mutation, torsinAΔE, is a deletion of a C-terminal glutamate residue in the AAA+ ATPase torsinA. TorsinA appears to be an endoplasmic reticulum (ER)/nuclear envelope chaperone with multiple roles in the secretory pathway...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2014) 7 (2): 233–243.
Published: 1 February 2014
... the intrinsic capacities of neuroprotective proteins to restore neuronal function and/or attenuate degeneration represents a potential means toward therapeutic intervention. The product of the human DYT1 gene, torsinA, is a member of the functionally diverse AAA+ family of proteins and exhibits robust molecular...