Associated Papers
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
39567669 (PubMed )
Supplement: 43856_2024_663_MOESM5_ESM.xlsx › GCK_Supplementary_Data_2
A clinical mutation in glucokinase causing maturity-onset diabetes in the young type 2 increases enzyme activity.
Aránguiz O et al.
Febs Letters, 2023
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › gnomAD
Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase.
Gutierrez-Nogués A et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Characterization of two MODY2 mutations with different susceptibility to activation.
Langer S et al.
Biochemical and Biophysical Research Communications, 2015
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
24578721 (PubMed )
Supplement: thnov04p0366s1.pdf
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
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