Associated Papers
Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.
Larsen AR et al.
Histology and Histopathology, 2024
Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.
Sabi SH et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024
Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.
Li C et al.
Diabetes, 2023
Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.
Boodhansingh KE et al.
European Journal of Endocrinology, 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
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
Hyperinsulinemic hypoglycemia subtype glucokinase V91L mutant induces necrosis in β-cells via ATP depletion.
Lu B et al.
Biochemistry and Biophysics Reports, 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
Molecular mechanisms of congenital hyperinsulinism.
Rahman SA et al.
Journal of Molecular Endocrinology, 2015
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
Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.
Hussain K
Reviews in Endocrine & Metabolic Disorders, 2010
Large islets, beta-cell proliferation, and a glucokinase mutation.
Kassem S et al.
The New England Journal of Medicine, 2010
Activating mutations in the human glucokinase gene revealed by genetic selection.
Pal P et al.
Biochemistry, 2009