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Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood
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...
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| Publicado no: | Neurogenetics |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4701769/ https://ncbi.nlm.nih.gov/pubmed/26463346 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-015-0461-1 |
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