Article
Characterization of two MODY2 mutations with different susceptibility to activation.
Biochemical and biophysical research communications - 4 Sept 2015
Langer Sara, Platz Christian, Waterstradt Rica, Baltrusch Simone
Abstract excerpt
Glucokinase plays a key role in glucose sensing in pancreatic beta cells and in liver metabolism. Heterozygous inactivating glucokinase mutations cause the autosomal dominantly inherited MODY2 subtype of maturity-onset diabetes of the young. The goal of this study was to elucidate the pathogenicity of the recently described glucokinase mutants L304P and L315H, located in an alpha-helix and connecting region,...
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