Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia

Antzeko izenburuak

• Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
  nork: Beer, N, et al.
  Argitaratua: (2011)
• Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
  nork: Tribble, N, et al.
  Argitaratua: (2009)
• Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
  nork: Ding, S, et al.
  Argitaratua: (2010)
• Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
  nork: Beer, N, et al.
  Argitaratua: (2009)
• Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
  nork: Osbak, K, et al.
  Argitaratua: (2009)