Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity

Mutations affecting the Na(+), K(+) ATPase alpha subunit have been implicated in at least two distinct human diseases, rapid-onset dystonia Parkinsonism (RDP), and familial hemiplegic migraine (FHM). Over 40 mutations have been mapped to the human ATP1A2 and ATP1A3 genes and are known to result in R...

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Detalles Bibliográficos
Autores principales: Ashmore, Lesley J., Hrizo, Stacy L., Paul, Sarah M., Van Voorhies, Wayne A., Beitel, Greg J., Palladino, Michael J.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791699/
https://www.ncbi.nlm.nih.gov/pubmed/19455355
http://dx.doi.org/10.1007/s00439-009-0673-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791699/
https://www.ncbi.nlm.nih.gov/pubmed/19455355
http://dx.doi.org/10.1007/s00439-009-0673-2

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