Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients

• Published in: Journal of human genetics Vol. 53; no. 5; pp. 460 - 466
• Main Authors: Estalella, Itziar, Garcia-Gimeno, Maria Adelaida, Marina, Alberto, Castaño, Luis, Sanz, Pascual
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.05.2008
• Subjects: Adolescent; Adult; Age of Onset; Aged; Amino Acid Substitution - genetics; Child; Diabetes; Diabetes mellitus (non-insulin dependent); Diabetes Mellitus, Type 2 - enzymology; Diabetes Mellitus, Type 2 - epidemiology; Diabetes Mellitus, Type 2 - genetics; Enzymatic activity; Glucokinase; Glucokinase - chemistry; Glucokinase - genetics; Humans; Kinetics; Middle Aged; Mutation; Mutation, Missense; Protein Conformation; Severity of Illness Index; Spain; Structure-function relationships; Spain

Mature-onset diabetes of the young, type 2 (MODY2) is associated with mutations in the glucokinase (GCK) gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized...