[PDF][PDF] Congenital hyperinsulinism: diagnosis and treatment update

H Demirbilek, K Hussain - Journal of clinical research in …, 2017 - jag.journalagent.com
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are
maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic …

The genetic and molecular mechanisms of congenital hyperinsulinism

S Galcheva, H Demirbilek, S Al-Khawaga… - Frontiers in …, 2019 - frontiersin.org
Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the
unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic …

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

A Bonnefond, M Boissel, A Bolze, E Durand… - Nature …, 2020 - nature.com
Genome-wide association studies have identified 240 independent loci associated with type
2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast …

[HTML][HTML] Congenital hyperinsulinism: current status and future perspectives

T Yorifuji - Annals of pediatric endocrinology & metabolism, 2014 - ncbi.nlm.nih.gov
The diagnosis and treatment of congenital hyperinsulinism (CHI) have made a remarkable
progress over the past 20 years and, currently, it is relatively rare to see patients who are left …

Reducing glucokinase activity to enhance insulin secretion: a counterintuitive theory to preserve cellular function and glucose homeostasis

NB Whitticar, CS Nunemaker - Frontiers in endocrinology, 2020 - frontiersin.org
Pancreatic beta-cells are the only cells in the body that can synthesize and secrete insulin.
Through the process of glucose-stimulated insulin secretion, beta-cells release insulin into …

Phenotypic characterization of congenital hyperinsulinism due to novel activating glucokinase mutations

C Li, CA Juliana, Y Yuan, M Li, M Lu, P Chen… - Diabetes, 2023 - Am Diabetes Assoc
The importance of glucokinase (GK) in the regulation of insulin secretion has been
highlighted by the phenotypes of individuals with activating and inactivating mutations in the …

Normal glucose metabolism in carnivores overlaps with diabetes pathology in non-carnivores

T Schermerhorn - Frontiers in endocrinology, 2013 - frontiersin.org
Carnivores, such as the dolphin and the domestic cat, have numerous adaptations that befit
consumption of diets with high protein and fat content, with little carbohydrate content …

A phospho-BAD BH3 helix activates glucokinase by a mechanism distinct from that of allosteric activators

B Szlyk, CR Braun, S Ljubicic, E Patton… - Nature structural & …, 2014 - nature.com
Glucokinase (GK) is a glucose-phosphorylating enzyme that regulates insulin release and
hepatic metabolism, and its loss of function is implicated in diabetes pathogenesis. GK …

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 …

Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology

H Demirbilek, SA Rahman, GG Buyukyilmaz… - International journal of …, 2017 - Springer
Glucose homeostasis requires appropriate and synchronous coordination of metabolic
events and hormonal activities to keep plasma glucose concentrations in a narrow range of …