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• W2149198116 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." @default.
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• W2149198116 date "2015-10-13" @default.
• W2149198116 modified "2023-09-27" @default.
• W2149198116 title "Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood" @default.
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• W2149198116 doi "https://doi.org/10.1007/s10048-015-0461-1" @default.
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