Kirshenbaum, G.S. and Dachtler, J. and Roder, J.C. and Clapcote, S.J. (2016) 'Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.', Neurogenetics., 17 (1). pp. 57-63.
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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|Publisher Web site:||https://doi.org/10.1007/s10048-015-0461-1|
|Publisher statement:||© The Author(s) 2015 Open Access 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.|
|Record Created:||03 May 2016 12:35|
|Last Modified:||22 Feb 2017 10:06|
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