Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the regulation of insulin secretion and has been termed the glucose sensor in pancreatic beta-cells. Given its central role in the regulation of insulin release it is understandable that mutations in the g...
Príomhchruthaitheoirí: | Osbak, K, Colclough, K, Saint-Martin, C, Beer, N, Bellanné-Chantelot, C, Ellard, S, Gloyn, A |
---|---|
Formáid: | Journal article |
Teanga: | English |
Foilsithe / Cruthaithe: |
2009
|
Míreanna comhchosúla
Míreanna comhchosúla
-
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
de réir: Gloyn, A
Foilsithe / Cruthaithe: (2003) -
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
de réir: Thomson, K, et al.
Foilsithe / Cruthaithe: (2003) -
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
de réir: Beer, N, et al.
Foilsithe / Cruthaithe: (2011) -
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
de réir: Turkkahraman, D, et al.
Foilsithe / Cruthaithe: (2008) -
Persistent hyperinsulinemic hypoglycemia in a 7 yr old girl due to a novel activating glucokinase mutation
de réir: Lahr, G, et al.
Foilsithe / Cruthaithe: (2007)