Identification and Rescue of Congenital Hyperinsulinism-Associated ABCC8 Mutations that Impair KATP Channel Trafficking
Assmaa ElSheikh, Yi‐Ying Kuo, Kara E. Boodhansingh…·Show‐Ling Shyng
The paper identifies seven new SUR1 mutations in HI patients that impair KATP channel trafficking and function, showing varied responses to pharmacochaperone rescue.