Mechanisms of KCNQ1 Channel Dysfunction in Long QT Syndrome Involving Voltage Sensor Domain Mutations
H. Huang, G. Kuenze, J. Smith, K. C. Taylor, A. M. Duran, A. Hadziselimovic, J. Meiler, C. Vanoye, A. George, C. Sanders
This study identifies that most KCNQ1 mutations causing long QT syndrome destabilize the voltage sensor domain, leading to mistrafficking and proteasomal degradation.
bioRxiv · Dec 10, 2017Biochemistry