Article
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
Diabetes - 1 Jul 1998
Shyng S L, Ferrigni T, Shepard J B, Nestorowicz A, Glaser B, Permutt M A, Nichols C G
Abstract excerpt
The ATP-sensitive potassium channel, K(ATP) channel, a functional complex of the sulfonylurea receptor 1, SUR1, and an inward rectifier potassium channel subunit, Kir6.2, regulates insulin secretion in the pancreas. Mutations in both the Kir6.2 and SUR1 genes are associated with persistent hyperi...
Topics
- ATP-Binding Cassette Transporters
- Adenosine Diphosphate
- Adenosine Triphosphate
- Alleles
- Animals
- COS Cells
- Cricetinae
- Diazoxide
- Humans
- Hyperinsulinism
- Hypoglycemia
- Infant
- Infant, Newborn
- Insulin
- Insulin Secretion
- Mice
- Mutagenesis, Site-Directed
- Pancreas