Associated Papers
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 2025
Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.
Abu Aqel Y et al.
Cellular & Molecular Biology Letters, 2024
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
High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.
Zubkova N et al.
Acta Diabetologica, 2019
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
The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.
Gozlan Y et al.
Pediatric Diabetes, 2012
Mutational analysis of allosteric activation and inhibition of glucokinase.
Zelent B et al.
The Biochemical Journal, 2011
Insight into the biochemical characteristics of a novel glucokinase gene mutation.
Shen Y et al.
Human Genetics, 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
[MODY2: Clinical and molecular genetic characteristics of 13 cases of the disease. The first description of MODY in Russia].
Dedov II et al.
Problemy Endokrinologii, 2009
Sugar binding to recombinant wild-type and mutant glucokinase monitored by kinetic measurement and tryptophan fluorescence.
Zelent B et al.
The Biochemical Journal, 2008
Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel.
Stern E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007
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 (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Gloyn AL
Human Mutation, 2003
Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.
Davis EA et al.
Diabetologia, 1999
Structural model of human glucokinase in complex with glucose and ATP: implications for the mutants that cause hypo- and hyperglycemia.
Mahalingam B et al.
Diabetes, 1999
Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype.
Miller SP et al.
Diabetes, 1999
Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.
Hattersley AT
Diabetic Medicine : a Journal of the British Diabetic Association, 1998
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Velho G et al.
Diabetologia, 1997