What is pathogenicity? Structural vulnerabilities lead to distinct phenotypes in a membrane protein, ATP1A3
Kathleen J. Sweadner, Laurie J. Ozelius, Aloysius Domingo, Kotchaphorn Mangkalaphiban, Ihtsham ul Haq, Allison Brashear, Elena Arystarkhova
The paper identifies structural vulnerabilities in ATP1A3 variants that lead to distinct neurological phenotypes through different mechanistic consequences.
bioRxiv · Oct 15, 2026 · PreprintNeuroscience