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Peter Proks  (Proks P) 1 Article
Neonatal Diabetes Caused by Activating Mutations in the Sulphonylurea Receptor
Peter Proks
Diabetes Metab J. 2013;37(3):157-164.   Published online June 14, 2013
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AbstractAbstract PDFPubReader   

Adenosine triphosphate (ATP)-sensitive potassium (KATP) channels in pancreatic β-cells play a crucial role in insulin secretion and glucose homeostasis. These channels are composed of two subunits: a pore-forming subunit (Kir6.2) and a regulatory subunit (sulphonylurea receptor-1). Recent studies identified large number of gain of function mutations in the regulatory subunit of the channel which cause neonatal diabetes. Majority of mutations cause neonatal diabetes alone, however some lead to a severe form of neonatal diabetes with associated neurological complications. This review focuses on the functional effects of these mutations as well as the implications for treatment.


Citations to this article as recorded by  
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Diabetes Metab J : Diabetes & Metabolism Journal