| First Author | Kirshenbaum GS | Year | 2016 |
| Journal | Neurogenetics | Volume | 17 |
| Issue | 1 | Pages | 57-63 |
| PubMed ID | 26463346 | Mgi Jnum | J:262367 |
| Mgi Id | MGI:6162364 | Doi | 10.1007/s10048-015-0461-1 |
| Citation | Kirshenbaum GS, et al. (2016) Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. Neurogenetics 17(1):57-63 |
| abstractText | Missense mutations in ATP1A3 encoding Na(+),K(+)-ATPase alpha3 are the primary cause of alternating hemiplegia of childhood (AHC). Most ATP1A3 mutations in AHC lie within a cluster in or near transmembrane alpha-helix TM6, including I810N that is also found in the Myshkin mouse model of AHC. These mutations all substantially reduce Na(+),K(+)-ATPase alpha3 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 alpha3 in AHC patients should be investigated further. |
