Article
Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability.
The Biochemical journal - 1 Jan 2006
Galán María, Vincent Olivier, Roncero Isabel, Azriel Sharona, Boix-Pallares Pedro, Delgado-Alvarez Elías, Díaz-Cadórniga Francisco, Blázquez Enrique, Navas María-Angeles
Abstract excerpt
Glucokinase acts as the pancreatic glucose sensor and plays a critical role in the regulation of insulin secretion by the beta-cell. Heterozygous mutations in the glucokinase-encoding GCK gene, which result in a reduction of the enzymatic activity, cause the monogenic form of diabetes, MODY2 (maturity-onset diabetes of the young 2). We have identified and functionally characterized missense mutations in the GCK...
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