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
A novel mutation in the KCNJ11 gene (p.Val36Glu), predisposes to congenital hyperinsulinemia.
Shah IA et al.
Gene, 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322
Carbamazepine promotes surface expression of mutant Kir6.2-A28V ATP-sensitive potassium channels by modulating Golgi retention and autophagy.
Lin CH et al.
The Journal of Biological Chemistry, 2022
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11.
Yang YY et al.
Channels (austin, Tex.), 2017
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