Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome

ATP1A3 encodes the α3 isoform of Na,K-ATPase. In the brain, it is expressed only in neurons. Human ATP1A3 mutations produce a wide spectrum of phenotypes, but particular syndromes are associated with unique substitutions. For arginine 756, at the junction of membrane and cytoplasmic domains, mutatio...

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Detalles Bibliográficos
Autores principales: Arystarkhova, Elena, Toustrup-Jensen, Mads S., Holm, Rikke, Ko, Jae-Kyun, Lee, Kyung Eun, Feschenko, Polina, Ozelius, Laurie J., Brashear, Allison, Vilsen, Bente, Sweadner, Kathleen J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9860391/
https://www.ncbi.nlm.nih.gov/pubmed/36462665
http://dx.doi.org/10.1016/j.jbc.2022.102758

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