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...
Topics
- Adult
- Amino Acid Sequence
- Diabetes Mellitus, Type 2
- Enzyme Stability
- Female
- Genetic Predisposition to Disease
- Glucokinase
- Humans
- Male
- Middle Aged
- Models, Molecular
- Mutation
- Pedigree