A comprehensive map of human glucokinase variant activity.

Sarah GersingMatteo CagiadaMarinella GebbiaAnette P GjesingAtina G CotéGireesh SeesankarRoujia LiDaniel TabetJochen WeileAmelie SteinAnna L GloynTorben HansenFrederick P RothKresten Lindorff-LarsenRasmus Hartmann-Petersen

Published in: Genome biology (2023)

Our comprehensive assessment of GCK variant activity promises to facilitate variant interpretation and diagnosis, expand our mechanistic understanding of hyperactive variants, and inform development of therapeutics targeting GCK.

Keyphrases

endothelial cells
small molecule
induced pluripotent stem cells
pluripotent stem cells
high density