Article

The proteostasis interactomes of trafficking-deficient K <sub>V</sub> 11.1 variants associated with Long QT Syndrome and pharmacological chaperone rescue

2024-01-31

Abstract excerpt

<h4>Introduction</h4> The voltage gated potassium ion channel K V 11.1 plays a critical role in cardiac repolarization. Genetic variants that render Kv11.1 dysfunctional cause Long QT Syndrome (LQTS), which is associated with fatal arrhythmias. Approximately 90% of LQTS-associated variants cause intracellular protein transport (trafficking) dysfunction, which can be rescued by pharmacological chaperones like E-4...

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Literature Corpus work: 7b82ae5d-545a-5762-bda9-3eff736db58b
DOI: 10.1101/2024.01.31.574410

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