Associated Papers
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
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
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
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
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
Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.
Maiorana A et al.
Orphanet Journal of Rare Diseases, 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 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
[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
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
Conformational transition pathway in the activation process of allosteric glucokinase.
Huang M et al.
Plos One, 2013
Mutational analysis of allosteric activation and inhibition of glucokinase.
Zelent B et al.
The Biochemical Journal, 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
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
Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
Gloyn AL et al.
Biochemical Society Transactions, 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
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
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
Differential diagnosis and management of neonatal hypoglycemia.
Sperling MA et al.
Pediatric Clinics of North America, 2004
Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase.
Kamata K et al.
Structure (london, England : 1993), 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
K(ATP) channels and insulin secretion disorders.
Huopio H et al.
American Journal of Physiology. Endocrinology and Metabolism, 2002