Intracellular Complexes of the Early-Onset Torsion Dystonia-Associated AAA+ ATPase TorsinA

Li, Hui, Wu, Hui-Chuan, Liu, Zhonghua, Zacchi, Lucia F., Brodsky, Jeffrey L. and Zolkiewski, Michal (2014) Intracellular Complexes of the Early-Onset Torsion Dystonia-Associated AAA+ ATPase TorsinA. SpringerPlus, 3 1: 743.1-743.5. doi:10.1186/2193-1801-3-743


Author Li, Hui
Wu, Hui-Chuan
Liu, Zhonghua
Zacchi, Lucia F.
Brodsky, Jeffrey L.
Zolkiewski, Michal
Title Intracellular Complexes of the Early-Onset Torsion Dystonia-Associated AAA+ ATPase TorsinA
Journal name SpringerPlus   Check publisher's open access policy
ISSN 2193-1801
Publication date 2014
Sub-type Article (original research)
DOI 10.1186/2193-1801-3-743
Open Access Status DOI
Volume 3
Issue 1
Start page 743.1
End page 743.5
Total pages 5
Place of publication Heidelberg, Germany
Publisher SpringerOpen
Language eng
Abstract A single GAG codon deletion in the gene encoding torsinA is linked to most cases of early-onset torsion dystonia. TorsinA is an ER-localized membrane-associated ATPase from the AAA+ superfamily with an unknown biological function. We investigated the formation of oligomeric complexes of torsinA in cultured mammalian cells and found that wild type torsinA associates into a complex with a molecular weight consistent with that of a homohexamer. Interestingly, the dystonia-linked variant torsinAΔE displayed a reduced propensity to form the oligomers compared to the wild type protein. We also discovered that the deletion of the N-terminal membrane-associating region of torsinA abolished oligomer formation. Our results demonstrate that the dystonia-linked mutation in the torsinA gene produces a protein variant that is deficient in maintaining its oligomeric state and suggest that ER membrane association is required to stabilize the torsinA complex.
Keyword AAA+ ATPase
Early-onset dystonia
TorsinA
Protein association
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Chemistry and Molecular Biosciences
 
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Created: Wed, 13 Apr 2016, 18:31:25 EST by Lucia Zacchi on behalf of School of Chemistry & Molecular Biosciences