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, Jeffrey L.
dc.contributor.author Zolkiewski, Michal
dc.date.accessioned 2015-02-25T16:06:38Z
dc.date.available 2015-02-25T16:06:38Z
dc.date.issued 2015-02-25
dc.identifier.uri http://hdl.handle.net/2097/18858
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. en_US
dc.language.iso en_US en_US
dc.relation.uri https://doi.org/10.1186/2193-1801-3-743 en_US
dc.rights This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. en_US
dc.rights.uri http://creativecommons.org/licenses/by/4.0 en_US
dc.subject Early-onset dystonia en_US
dc.subject TorsinA en_US
dc.subject AAA+ ATPase en_US
dc.subject Protein association en_US
dc.title Intracellular complexes of the early-onset torsion dystonia-associated AAA+ ATPase TorsinA en_US
dc.type Article (publisher version) en_US
dc.date.published 2014 en_US
dc.citation.doi 10.1186/2193-1801-3-743 en_US
dc.citation.jtitle SpringerPlus en_US
dc.citation.spage 743 en_US
dc.citation.volume 3 en_US
dc.contributor.authoreid michalz en_US


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This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. Except where otherwise noted, the use of this item is bound by the following: This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited.

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