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

Benzer Materyaller

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