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Article

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

The Journal of biological chemistry - 1 Jan 2023

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

Abstract excerpt

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, mutations produce encephalopathy during febrile infections. Here we tested the pathogenicity of p.Arg756His (R756H) in...

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Identifiers

PMID: 36462665
DOI: 10.1016/j.jbc.2022.102758
PMCID: PMC9860391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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