Article
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
Diabetes - 1 Jun 2006
Sagen Jørn V, Odili Stella, Bjørkhaug Lise, Zelent Dorothy, Buettger Carol, Kwagh Jae, Stanley Charles, Dahl-Jørgensen Knut, de Beaufort Carine, Bell Graeme I, Han Yi, Grimsby Joseph, Taub Rebecca, Molven Anders, Søvik Oddmund, Njølstad Pål R, Matschinsky Franz M
Abstract excerpt
Glucokinase functions as a glucose sensor in pancreatic beta-cells and regulates hepatic glucose metabolism. A total of 83 probands were referred for a diagnostic screening of mutations in the glucokinase (GCK) gene. We found 11 different mutations (V62A, G72R, L146R, A208T, M210K, Y215X, S263P, E339G, R377C, S453L, and IVS5 + 1G>C) in 14 probands. Functional characterization of recombinant glutathionyl...
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