Associated Papers
Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.
Abu Aqel Y et al.
Cellular & Molecular Biology Letters, 2024
Comparison of Variants of Uncertain Significance in Three Regions of the Human Glucokinase Protein Using In Vitro and In Silico Analyses.
Gay C et al.
Cureus, 2024
FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction.
Tsishyn M et al.
Human Genomics, 2024
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
Accurate proteome-wide missense variant effect prediction with AlphaMissense.
Cheng J et al.
Science (new York, N.y.), 2023
Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS): Review of the Literature of a Rare Cause of Hyperinsulinemic Hypoglycemia.
Dieterle MP et al.
Biomedicines, 2023
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Biorxiv : the Preprint Server for Biology, 2023
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
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
Glucokinase activating mutation causing hypoglycaemia diagnosed late in adult who fasts for Ramadhan.
Loh WJ et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
Clinical implications of the glucokinase impaired function - GCK MODY today.
Hulín J et al.
Physiological Research, 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
First evidence of changes in enzyme kinetics and stability of glucokinase affected by somatic cancer-associated variations.
Těšínský M et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 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
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
Martínez R et al.
Clinical Endocrinology, 2017
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
Martínez R et al.
European Journal of Endocrinology, 2016
[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
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
Role of connecting loop I in catalysis and allosteric regulation of human glucokinase.
Martinez JA et al.
Protein Science : a Publication of the Protein Society, 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
Mutational analysis of allosteric activation and inhibition of glucokinase.
Zelent B et al.
The Biochemical Journal, 2011
Research and development of glucokinase activators for diabetes therapy: theoretical and practical aspects.
Matschinsky FM et al.
Handbook of Experimental Pharmacology, 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
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
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
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
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
Family with autosomal dominant hyperinsulinism associated with A456V mutation in the glucokinase gene.
Dullaart RP et al.
Journal of Internal Medicine, 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
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
Gloyn AL et al.
Diabetes, 2003