Article

Hypoxia Exacerbates Kir2.1 Channel Dysfunction in an Andersen-Tawil Syndrome Variant Through a SUMO-Dependent Mechanism

2025-04-29

Abstract excerpt

<h4>Background: </h4> Andersen-Tawil Syndrome type 1 (ATS1) is a multisystem channelopathy that predisposes patients to ventricular dysrhythmias and increases the risk of sudden cardiac death. ATS1 arises from loss-of-function mutations in Kir2.1, the inward rectifying potassium channel responsible for most of IK1 in ventricular cardiomyocytes. IK1 is suppressed by SUMOylation, a post-translational modification up...

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Literature Corpus work: 74870938-a06d-53b5-93ed-009c295c3b26
DOI: 10.1101/2025.04.25.650734

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