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Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations

Missense mutations in ATP1A3, the α3 isoform of Na,K-ATPase, cause neurological phenotypes that differ greatly in symptoms and severity. A mechanistic basis for differences is lacking, but reduction of activity alone cannot explain them. Isogenic cell lines with endogenous α1 and inducible exogenous...

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Detalles Bibliográficos
Autores principales:	Arystarkhova, Elena, Ozelius, Laurie J., Brashear, Allison, Sweadner, Kathleen J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Biochemistry and Molecular Biology 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7949067/ https://www.ncbi.nlm.nih.gov/pubmed/33144327 http://dx.doi.org/10.1074/jbc.RA120.015271

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