Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kirshenbaum, Greer S., Dachtler, James, Roder, John C., Clapcote, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701769/
https://www.ncbi.nlm.nih.gov/pubmed/26463346
http://dx.doi.org/10.1007/s10048-015-0461-1