Associated Papers
Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.
Boodhansingh KE et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.
Abu Aqel Y et al.
Cellular & Molecular Biology Letters, 2024
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes.
Langer S et al.
Diabetologia, 2021
Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg).
Gilis-Januszewska A et al.
Genes, 2021
Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase-activating mutations: A report of two cases and a brief overview of the literature.
Ping F et al.
Journal of Diabetes Investigation, 2019
6-Phosphofructo-2-kinase/fructose-2,6-bisphosphatase and small chemical activators affect enzyme activity of activating glucokinase mutants by distinct mechanisms.
Langer S et al.
Biochemical Pharmacology, 2019
Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.
Šimčíková D et al.
Scientific Reports, 2017
Molecular mechanisms of congenital hyperinsulinism.
Rahman SA et al.
Journal of Molecular Endocrinology, 2015
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.
Del Roio Liberatore R et al.
Diabetology & Metabolic Syndrome, 2015
Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.
Challis BG et al.
Clinical Endocrinology, 2014
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
George DC et al.
Theranostics, 2014
A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugs.
Shammas C et al.
Metabolism: Clinical and Experimental, 2013
Mutational analysis of allosteric activation and inhibition of glucokinase.
Zelent B et al.
The Biochemical Journal, 2011
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK et al.
Human Mutation, 2009
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.
Sayed S et al.
Diabetes, 2009
Activating mutations in the human glucokinase gene revealed by genetic selection.
Pal P et al.
Biochemistry, 2009
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
Christesen HB et al.
European Journal of Endocrinology, 2008
Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
Wabitsch M et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2007