Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

KK Osbak, K Colclough, C Saint‐Martin… - Human …, 2009 - Wiley Online Library
Glucokinase is a key regulatory enzyme in the pancreatic beta‐cell. It plays a crucial role in
the regulation of insulin secretion and has been termed the glucose sensor in pancreatic …

The human islet: mini-organ with mega-impact

JT Walker, DC Saunders, M Brissova… - Endocrine …, 2021 - academic.oup.com
This review focuses on the human pancreatic islet—including its structure, cell composition,
development, function, and dysfunction. After providing a historical timeline of key …

A comprehensive map of human glucokinase variant activity

S Gersing, M Cagiada, M Gebbia, AP Gjesing, AG Coté… - Genome Biology, 2023 - Springer
Background Glucokinase (GCK) regulates insulin secretion to maintain appropriate blood
glucose levels. Sequence variants can alter GCK activity to cause hyperinsulinemic …

Loci related to metabolic-syndrome pathways including LEPR, HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study

PM Ridker, G Pare, A Parker, RYL Zee, JS Danik… - The American Journal of …, 2008 - cell.com
Although elevated levels of C-reactive protein (CRP) independently predict increased risk of
development of metabolic syndrome, diabetes, myocardial infarction, and stroke …

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

J Stanik, P Dusatkova, O Cinek, L Valentinova… - Diabetologia, 2014 - Springer
Aims/hypothesis MODY is mainly characterised by an early onset of diabetes and a positive
family history of diabetes with an autosomal dominant mode of inheritance. However, de …

Genetic risk factors and gene–lifestyle interactions in gestational diabetes

T Jääskeläinen, MM Klemetti - Nutrients, 2022 - mdpi.com
Paralleling the increasing trends of maternal obesity, gestational diabetes (GDM) has
become a global health challenge with significant public health repercussions. In addition to …

Mutations in GCK and HNF‐1α explain the majority of cases with clinical diagnosis of MODY in Spain

I Estalella, I Rica, GP De Nanclares… - Clinical …, 2007 - Wiley Online Library
Objective The aim of this study was to group patients with MODY (maturity‐onset diabetes of
the young) according to the genetic alterations underlying the disease and to investigate …

Targeted sequencing identifies novel variants in common and rare MODY genes

LS de Santana, LA Caetano… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes
with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently …

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

A Raimondo, AJ Chakera, SK Thomsen… - Human molecular …, 2014 - academic.oup.com
Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-
of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due …

How heterogeneity in glucokinase and gap-junction coupling determines the islet [Ca2+] response

JAM Dwulet, NWF Ludin, RA Piscopio, WE Schleicher… - Biophysical journal, 2019 - cell.com
Understanding how cell subpopulations in a tissue impact overall system function is
challenging. There is extensive heterogeneity among insulin-secreting β-cells within islets of …