G.S. Kirshenbaum
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood
Kirshenbaum, G.S.; Dachtler, J.; Roder, J.C.; Clapcote, S.J.
Authors
J. Dachtler
J.C. Roder
S.J. Clapcote
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.
Citation
Kirshenbaum, G., Dachtler, J., Roder, J., & Clapcote, S. (2016). Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. neurogenetics, 17(1), 57-63. https://doi.org/10.1007/s10048-015-0461-1
Journal Article Type | Article |
---|---|
Acceptance Date | Sep 16, 2015 |
Online Publication Date | Oct 13, 2015 |
Publication Date | Jan 1, 2016 |
Deposit Date | Apr 15, 2016 |
Publicly Available Date | May 3, 2016 |
Journal | neurogenetics |
Print ISSN | 1364-6745 |
Electronic ISSN | 1364-6753 |
Publisher | Springer |
Peer Reviewed | Peer Reviewed |
Volume | 17 |
Issue | 1 |
Pages | 57-63 |
DOI | https://doi.org/10.1007/s10048-015-0461-1 |
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Copyright 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.
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