Intracellular complexes of the early-onset torsion dystonia-associated AAA+ ATPase TorsinA

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dc.contributor.author Li, Hui
dc.contributor.author Wu, Hui-Chuan
dc.contributor.author Liu, Zhonghua
dc.contributor.author Zacchi, Lucia F.
dc.contributor.author Brodsky, Jeffery L.
dc.contributor.author Zolkiewski, Michal
dc.date.accessioned 2018-12-03T20:16:43Z
dc.date.available 2018-12-03T20:16:43Z
dc.date.issued 2014-12-16
dc.identifier.uri http://hdl.handle.net/2097/39352
dc.description Citation: Li, H., Wu, H.-C., Liu, Z., Zacchi, L. F., Brodsky, J. L., & Zolkiewski, M. (2014). Intracellular complexes of the early-onset torsion dystonia-associated AAA+ ATPase TorsinA. SpringerPlus, 3(1), 743. https://doi.org/10.1186/2193-1801-3-743
dc.description.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.
dc.relation.uri https://doi.org/10.1186/2193-1801-3-743
dc.rights Attribution 4.0 International (CC BY 4.0)
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject Early-onset dystonia
dc.subject TorsinA
dc.subject AAA+ ATPase
dc.subject Protein association
dc.title Intracellular complexes of the early-onset torsion dystonia-associated AAA+ ATPase TorsinA
dc.type Text
dc.date.published 2014
dc.citation.doi 10.1186/2193-1801-3-743
dc.citation.issn 2193-1801
dc.citation.issue 1
dc.citation.jtitle SpringerPlus
dc.citation.volume 3
dc.citation Li, H., Wu, H.-C., Liu, Z., Zacchi, L. F., Brodsky, J. L., & Zolkiewski, M. (2014). Intracellular complexes of the early-onset torsion dystonia-associated AAA+ ATPase TorsinA. SpringerPlus, 3(1), 743. https://doi.org/10.1186/2193-1801-3-743
dc.description.version Article:Version of Record (VOR)


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Attribution 4.0 International (CC BY 4.0) Except where otherwise noted, the use of this item is bound by the following: Attribution 4.0 International (CC BY 4.0)

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