Associated Papers
Functional and Mechanistic Explanation for the Unique Clinical Success of the Glucokinase Activator Dorzagliatin in the Treatment of Type 2 Diabetes.
Roman J et al.
Diabetes, 2025
Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.
Abu Aqel Y et al.
Cellular & Molecular Biology Letters, 2024
Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.
Larsen AR et al.
Histology and Histopathology, 2024
Functional studies of deafness-associated pendrin and prestin variants.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2024
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
Glucokinase activity in diabetes: too much of a good thing?
Ashcroft FM et al.
Trends in Endocrinology and Metabolism: Tem, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 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
Biphasic dynamics of beta cell mass in a mouse model of congenital hyperinsulinism: implications for type 2 diabetes.
Tornovsky-Babeay S et al.
Diabetologia, 2021
Clinical implications of the glucokinase impaired function - GCK MODY today.
Hulín J et al.
Physiological Research, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
L-Arginine prevents cereblon-mediated ubiquitination of glucokinase and stimulates glucose-6-phosphate production in pancreatic β-cells.
Cho J et al.
Communications Biology, 2020
Nanosecond-Timescale Dynamics and Conformational Heterogeneity in Human GCK Regulation and Disease.
Sternisha SM et al.
Biophysical Journal, 2020
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
Hyperinsulinemic hypoglycemia subtype glucokinase V91L mutant induces necrosis in β-cells via ATP depletion.
Lu B et al.
Biochemistry and Biophysics Reports, 2019
Is Type 2 Diabetes a Glycogen Storage Disease of Pancreatic β Cells?
Ashcroft FM et al.
Cell Metabolism, 2017
[Actual trends in diagnostics and treatment of congenital hyperinsulinism].
Staník J et al.
Vnitrni Lekarstvi, 2016
Molecular mechanisms of congenital hyperinsulinism.
Rahman SA et al.
Journal of Molecular Endocrinology, 2015
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
Susceptibility of glucokinase-MODY mutants to inactivation by oxidative stress in pancreatic β-cells.
Cullen KS et al.
Diabetes, 2011
Crystal structure of E339K mutated human glucokinase reveals changes in the ATP binding site.
Liu Q et al.
Febs Letters, 2011
Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.
Hussain K
Reviews in Endocrine & Metabolic Disorders, 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
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.
Sayed S et al.
Diabetes, 2009
Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type.
Ralph EC et al.
Biochemistry, 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
Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions.
Molnes J et al.
The Febs Journal, 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
Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation.
Bjørkhaug L et al.
The Journal of Biological Chemistry, 2007
Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations.
Heredia VV et al.
The Journal of Biological Chemistry, 2006
Glucose-induced conformational changes in glucokinase mediate allosteric regulation: transient kinetic analysis.
Heredia VV et al.
Biochemistry, 2006
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
Sagen JV et al.
Diabetes, 2006
A novel glucokinase activator modulates pancreatic islet and hepatocyte function.
Efanov AM et al.
Endocrinology, 2005
Structure-function analysis of the alpha5 and the alpha13 helices of human glucokinase: description of two novel activating mutations.
Pedelini L et al.
Protein Science : a Publication of the Protein Society, 2005
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
Gloyn AL et al.
The Journal of Biological Chemistry, 2005
Glucokinase and glucose homeostasis: proven concepts and new ideas.
Zelent D et al.
Biochemical Society Transactions, 2005
Dominantly inherited hyperinsulinaemic hypoglycaemia.
de Lonlay P et al.
Journal of Inherited Metabolic Disease, 2005
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
Cuesta-Muñoz AL et al.
Diabetes, 2004
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