Severe Congenital Hyperinsulinism Caused by a Mutation in the Kir6.2 Subunit of the Adenosine Triphosphate-Sensitive Potassium Channel Impairing Trafficking and Function | Zendy

Eric Marthinet | Zendy; Alain Bloc | Zendy; Y Oka | Zendy; Yukio Tanizawa | Zendy; Bernhard WehrleHaller | Zendy; Victor Bancila | Zendy; Jean-Michel Dubuis | Zendy; Jacques Philippé | Zendy; Valérie Schwitzgebel | Zendy

Open Access

Severe Congenital Hyperinsulinism Caused by a Mutation in the Kir6.2 Subunit of the Adenosine Triphosphate-Sensitive Potassium Channel Impairing Trafficking and Function

Author(s) -

Eric Marthinet,

Alain Bloc,

Y Oka,

Yukio Tanizawa,

Bernhard WehrleHaller,

Victor Bancila,

Jean-Michel Dubuis,

Jacques Philippé,

Valérie Schwitzgebel

Publication year - 2005

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2005-0202

Subject(s) - hyperinsulinemic hypoglycemia , sulfonylurea receptor , congenital hyperinsulinism , medicine , endocrinology , hek 293 cells , potassium channel , hyperinsulinism , er retention , diazoxide , mutation , endoplasmic reticulum , kir6.2 , hypoglycemia , biology , microbiology and biotechnology , protein subunit , mutant , receptor , insulin , glibenclamide , biochemistry , insulin resistance , diabetes mellitus , gene

The ATP-sensitive potassium (K(ATP)) channel, assembled from the inwardly rectifying potassium channel Kir6.2 and the sulfonylurea receptor 1, regulates insulin secretion in beta-cells. A loss of function of K(ATP) channels causes depolarization of beta-cells and congenital hyperinsulinism (CHI), a disease presenting with severe hypoglycemia in the newborn period.

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