Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
Main Authors: | Beer, N, Tribble, N, Colclough, K, Arundel, P, Grimsby, J, Chik, C, Ellard, S, Gloyn, A |
---|---|
Formato: | Conference item |
Publicado: |
2010
|
Títulos similares
-
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
por: Beer, N, et al.
Publicado: (2011) -
Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
por: Tribble, N, et al.
Publicado: (2009) -
Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
por: Ding, S, et al.
Publicado: (2010) -
Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
por: Beer, N, et al.
Publicado: (2009) -
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
por: Osbak, K, et al.
Publicado: (2009)