Associated Papers
Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.
Rajesh V et al.
International Journal of Molecular Sciences, 2025
Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.
Schiabor Barrett KM et al.
Communications Medicine, 2024
Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.
Abu Aqel Y et al.
Cellular & Molecular Biology Letters, 2024
Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection.
Schwitzgebel VM et al.
Frontiers in Medicine, 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
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel.
Kherra S et al.
Swiss Medical Weekly, 2017
Epistasis and allele specificity in the emergence of a stable polymorphism in Escherichia coli.
Plucain J et al.
Science (new York, N.y.), 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
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
Negahdar M et al.
Biochimica Et Biophysica Acta, 2012
Insight into the biochemical characteristics of a novel glucokinase gene mutation.
Shen Y et al.
Human Genetics, 2011
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.
Bonfig W et al.
Isrn Pediatrics, 2011
[The functional analysis of glucokinase gene E339K mutation].
Shen YF et al.
Zhonghua Nei Ke Za Zhi, 2010
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
Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.
Arden C et al.
Diabetes, 2007
Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment.
Schnyder S et al.
Swiss Medical Weekly, 2005
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).
Toaima D et al.
Human Mutation, 2005
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Gloyn AL
Human Mutation, 2003
Analysis of the cooperativity of human beta-cell glucokinase through the stimulatory effect of glucose on fructose phosphorylation.
Moukil MA et al.
The Journal of Biological Chemistry, 2001
Study of the regulatory properties of glucokinase by site-directed mutagenesis: conversion of glucokinase to an enzyme with high affinity for glucose.
Moukil MA et al.
Diabetes, 2000
Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.
Davis EA et al.
Diabetologia, 1999
Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI).
Burke CV et al.
The Biochemical Journal, 1999
Structural model of human glucokinase in complex with glucose and ATP: implications for the mutants that cause hypo- and hyperglycemia.
Mahalingam B et al.
Diabetes, 1999
Familial hyperinsulinism caused by an activating glucokinase mutation.
Glaser B et al.
The New England Journal of Medicine, 1998
Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.
Hattersley AT
Diabetic Medicine : a Journal of the British Diabetic Association, 1998
Diagnostic heterogeneity of diabetes in lean young adults: classification based on immunological and genetic parameters.
Dussoix P et al.
Diabetes, 1997
Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2).
Kesavan P et al.
The Biochemical Journal, 1997
Abnormal regulation of hepatic glucose output in maturity-onset diabetes of the young caused by a specific mutation of the glucokinase gene.
Tappy L et al.
Diabetes, 1997
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Velho G et al.
Diabetologia, 1997
Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm.
Matschinsky FM
Diabetes, 1996
Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme.
Liang Y et al.
The Biochemical Journal, 1995
Characterization of Japanese families with early-onset type 2 (non-insulin dependent) diabetes mellitus and screening for mutations in the glucokinase and mitochondrial tRNA(Leu(UUR)) genes.
Iwasaki N et al.
Acta Diabetologica, 1995
Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B.
St Charles R et al.
Diabetes, 1994
Compensation in pancreatic beta-cell function in subjects with glucokinase mutations.
Sturis J et al.
Diabetes, 1994
Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations.
Byrne MM et al.
The Journal of Clinical Investigation, 1994
Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.
Gidh-Jain M et al.
Proceedings of the National Academy of Sciences of the United States of America, 1993