Why the study?
Does abnormal KCNQ1 trafficking contribute to the pathogenesis of hereditary long QT syndrome (LQT1)?
Population
CHO-K1 and C2C12 cells expressing wildtype and mutant KCNQ1 channel subunits together with auxiliary subunit…
Comparison
Introduction of nine missense and nonsense… vs Wildtype KCNQ1 channel subunits
Design
Preclinical
Authors
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Trafficking defects may underlie LQT1 in models; leaves open human validation and therapeutic targeting.
Does abnormal KCNQ1 trafficking contribute to the pathogenesis of hereditary long QT syndrome (LQT1)?
Abnormal KCNQ1 channel trafficking, including retention in the endoplasmic reticulum and dominant negative suppression of wildtype channels, contributes to the pathogenesis of LQT1.
Wilson et al. (2005) studied this question.
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