Associated Papers
Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.
Boodhansingh KE et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.
Lee CT et al.
Frontiers in Endocrinology, 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
Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells.
Henquin JC et al.
Diabetes, 2013
Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition.
Martinez J et al.
The Journal of Biological Chemistry, 2012
Activating mutations in the human glucokinase gene revealed by genetic selection.
Pal P et al.
Biochemistry, 2009
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
Penner J et al.
Biochemistry, 2006
Select a paper to view details