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
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
A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2.
Tanaka S et al.
Endocrine Journal, 2023
A clinical mutation in glucokinase causing maturity-onset diabetes in the young type 2 increases enzyme activity.
Aránguiz O et al.
Febs Letters, 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
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
A Case of Mody 2 - Associated Hyperglycemia Diagnosed as Gestational Diabetes.
Chakarova N et al.
Balkan Journal of Medical Genetics : Bjmg, 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
Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age.
Katashima R et al.
Journal of Diabetes Research, 2021
SLC35B4, an Inhibitor of Gluconeogenesis, Responds to Glucose Stimulation and Downregulates Hsp60 among Other Proteins in HepG2 Liver Cell Lines.
Wex B et al.
Molecules (basel, Switzerland), 2018
Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.
Kleinberger JW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Glucokinase mutations in pediatric patients with impaired fasting glucose.
Aloi C et al.
Acta Diabetologica, 2017
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
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.
Shields BM et al.
Diabetes Care, 2017
High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus.
Gjesing AP et al.
Journal of the Endocrine Society, 2017
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.
Shepherd M et al.
Diabetes Care, 2016
GCK, GCKR polymorphisms and risk of chronic kidney disease in Japanese individuals: data from the J-MICC Study.
Hishida A et al.
Journal of Nephrology, 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
Conformational transition pathway in the activation process of allosteric glucokinase.
Huang M et al.
Plos One, 2013
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
Negahdar M et al.
Biochimica Et Biophysica Acta, 2012
Mutational analysis of allosteric activation and inhibition of glucokinase.
Zelent B et al.
The Biochemical Journal, 2011
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
Steele AM et al.
Diabetologia, 2011
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
Beer NL et al.
The Journal of Biological Chemistry, 2011
Insight into the biochemical characteristics of a novel glucokinase gene mutation.
Shen Y et al.
Human Genetics, 2011
Research and development of glucokinase activators for diabetes therapy: theoretical and practical aspects.
Matschinsky FM et al.
Handbook of Experimental Pharmacology, 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
Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
Ding SY et al.
Molecular Endocrinology (baltimore, Md.), 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 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
Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
Gloyn AL et al.
Biochemical Society Transactions, 2008
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.
Estalella I et al.
Journal of Human Genetics, 2008
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
Glucokinase thermolability and hepatic regulatory protein binding are essential factors for predicting the blood glucose phenotype of missense mutations.
Pino MF et al.
The Journal of Biological Chemistry, 2007
Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.
García-Herrero CM et al.
Diabetologia, 2007
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
Sagen JV et al.
Diabetes, 2006