Kirshenbaum, GS, Dachtler, JD, Roder, JC et al. (1 more author) (2016) Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. Neurogenetics, 17 (1). pp. 57-63. ISSN 1364-6745
Abstract
Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 are the primary cause of alternating hemiplegia of childhood (AHC). Most ATP1A3 mutations in AHC lie within a cluster in or near transmembrane α-helix TM6, including I810N that is also found in the Myshkin mouse model of AHC. These mutations all substantially reduce Na+,K+-ATPase α3 activity. Herein, we show that Myshkin mice carrying a wild-type Atp1a3 transgene that confers a 16 % increase in brain-specific total Na+,K+-ATPase activity show significant phenotypic improvements compared with non-transgenic Myshkin mice. Interventions to increase the activity of wild-type Na+,K+-ATPase α3 in AHC patients should be investigated further.
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Copyright, Publisher and Additional Information: | (c) The Author(s) 2015. This article is published with open access at Springerlink.com. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http:// creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. | ||||
Keywords: | Alternating hemiplegia; Transgenic rescue; Na+,K+-ATPase α3; Atp1a3; Mice | ||||
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Institution: | The University of Leeds | ||||
Academic Units: | The University of Leeds > Faculty of Biological Sciences (Leeds) | ||||
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Depositing User: | Symplectic Publications | ||||
Date Deposited: | 29 Oct 2015 11:26 | ||||
Last Modified: | 09 Mar 2016 00:11 | ||||
Published Version: | http://dx.doi.org/10.1007/s10048-015-0461-1 | ||||
Status: | Published | ||||
Publisher: | Springer Verlag | ||||
Identification Number: | https://doi.org/10.1007/s10048-015-0461-1 |