A missense mutation converts the Na(+),K(+)-ATPase into an ion channel and causes therapy-resistant epilepsy

The ion pump Na(+),K(+)-ATPase is a critical determinant of neuronal excitability; however, its role in the etiology of diseases of the central nervous system (CNS) is largely unknown. We describe here the molecular phenotype of a Trp931Arg mutation of the Na(+),K(+)-ATPase catalytic α1 subunit in a...

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Detalles Bibliográficos
Autores principales: Ygberg, Sofia, Akkuratov, Evgeny E., Howard, Rebecca J., Taylan, Fulya, Jans, Daniel C., Mahato, Dhani R., Katz, Adriana, Kinoshita, Paula F., Portal, Benjamin, Nennesmo, Inger, Lindskog, Maria, Karlish, Steven J.D., Andersson, Magnus, Lindstrand, Anna, Brismar, Hjalmar, Aperia, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8637647/
https://www.ncbi.nlm.nih.gov/pubmed/34717959
http://dx.doi.org/10.1016/j.jbc.2021.101355

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