Article
Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.
The Journal of clinical investigation - 1 Jan 2009
Girard Christophe A, Wunderlich F Thomas, Shimomura Kenju, Collins Stephan, Kaizik Stephan, Proks Peter, Abdulkader Fernando, Clark Anne, Ball Vicky, Zubcevic Lejla, Bentley Liz, Clark Rebecca, Church Chris, Hugill Alison, Galvanovskis Juris, Cox Roger, Rorsman Patrik, Brüning Jens C, Ashcroft Frances M
Abstract excerpt
Neonatal diabetes is a rare monogenic form of diabetes that usually presents within the first six months of life. It is commonly caused by gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of the plasmalemmal ATP-sensitive K+ (KATP) channel. To better understand this d...
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