Associated Papers
Identification and rescue of congenital hyperinsulinism-associated ABCC8 mutations that impair KATP channel trafficking.
ElSheikh A et al.
The Journal of Biological Chemistry, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Identification and Rescue of Congenital Hyperinsulinism-Associated ABCC8 Mutations that Impair KATP Channel Trafficking.
ElSheikh A et al.
Biorxiv : the Preprint Server for Biology, 2025
Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.
Driggers CM et al.
Nature Communications, 2024
Structure of an open K ATP channel reveals tandem PIP 2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.
Driggers CM et al.
Biorxiv : the Preprint Server for Biology, 2024
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E et al.
Human Mutation, 2020
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