GeneticsbioRxivPreprint
A novel mutation in KCNK16 causing a gain-of-function in the TALK-1 potassium channel: a new cause of maturity onset diabetes of the young.
Sarah M. Graff, Stephanie R. Johnson, Paul J. Leo…·Emma L. Duncan
The paper identifies a novel gain-of-function mutation in KCNK16 causing MODY by impairing Ca2+ influx and glucose-stimulated insulin secretion.
DOI 10.1101/2020.02.04.929430