Associated Papers
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
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
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
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
28842611 (PubMed )
Supplement: 41598_2017_9810_MOESM1_ESM.pdf
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
Sugar binding to recombinant wild-type and mutant glucokinase monitored by kinetic measurement and tryptophan fluorescence.
Zelent B et al.
The Biochemical Journal, 2008
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