Associated Papers
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM2_ESM.xlsx › ddG_1V4S_GLC
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Biorxiv : the Preprint Server for Biology, 2023
37292969 (PubMed )
Supplement: media-2.xlsx › ddG_all
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › hyper-variants-positive-dddG
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
34532767 (PubMed )
Supplement: 125_2021_5553_MOESM1_ESM.pdf
Glucokinase activating mutation causing hypoglycaemia diagnosed late in adult who fasts for Ramadhan.
Loh WJ et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
MODY2 in Asia: analysis of GCK mutations and clinical characteristics.
Zhou Y et al.
Endocrine Connections, 2020
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
Role of connecting loop I in catalysis and allosteric regulation of human glucokinase.
Martinez JA et al.
Protein Science : a Publication of the Protein Society, 2014
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
Bellanné-Chantelot C et al.
Journal of Medical Genetics, 2010
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK et al.
Human Mutation, 2009
Activating mutations in the human glucokinase gene revealed by genetic selection.
Pal P et al.
Biochemistry, 2009
Select a paper to view details