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Identification and Rescue of Congenital Hyperinsulinism-Associated <i>ABCC8</i> Mutations that Impair K <sub>ATP</sub> Channel Trafficking

2025-05-19

Abstract excerpt

ATP-sensitive potassium (K ATP ) channels composed of Kir6.2 and sulfonylurea receptor 1 (SUR1) couple glucose metabolism with insulin secretion in pancreatic β-cells and are vital to glucose homeostasis. Loss-of-function mutations in SUR1 and Kir6.2, encoded by ABCC8 and KCNJ11 , respectively are the commonest causes of severe persistent hypoglycemia in infants and children seen in the rare disease congenital...

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Literature Corpus work
3d1affea-aec0-5232-aaa5-185891347271
DOI
10.1101/2025.05.18.654760
Open publication

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Identification and Rescue of Congenital Hyperinsulinism-Associated <i>ABCC8</i> Mutations that Impair K <sub>ATP</sub> Channel TraffickingDOI 10.1101/2025.05.18.654760
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