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

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

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 beta-cells. Given its central role in the regulation of insulin release it is understandable that mutations in the g...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Osbak, K, Colclough, K, Saint-Martin, C, Beer, N, Bellanné-Chantelot, C, Ellard, S, Gloyn, A
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2009

Antzeko izenburuak

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
nork: Gloyn, A
Argitaratua: (2003)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
nork: Thomson, K, et al.
Argitaratua: (2003)

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
nork: Beer, N, et al.
Argitaratua: (2011)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
nork: Turkkahraman, D, et al.
Argitaratua: (2008)

Persistent hyperinsulinemic hypoglycemia in a 7 yr old girl due to a novel activating glucokinase mutation
nork: Lahr, G, et al.
Argitaratua: (2007)

Hyperinsulinemic hypoglycemia, clinical considerations and a case report of a novel GCK mutation
nork: Michelle Kraslow, et al.
Argitaratua: (2021-06-01)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
nork: Gasperikova, D, et al.
Argitaratua: (2008)

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis
nork: Yasmin Abu Aqel, et al.
Argitaratua: (2024-09-01)

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
nork: Christesen, H, et al.
Argitaratua: (2008)

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges
nork: José Timsit, et al.
Argitaratua: (2022-01-01)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
nork: Gloyn, A, et al.
Argitaratua: (2007)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
nork: Gloyn, A, et al.
Argitaratua: (2002)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
nork: Li, Xiuzhen, et al.
Argitaratua: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
nork: Xiuzhen Li, et al.
Argitaratua: (2018-03-01)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
nork: Valentinova, L, et al.
Argitaratua: (2011)

Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations
nork: Arianna Maiorana, et al.
Argitaratua: (2021-10-01)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
nork: Gloyn, A, et al.
Argitaratua: (2008)

Identification of a Novel beta-Cell Glucokinase (GCK) Promoter Mutation (-71G > C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans
nork: Gasperikova, D, et al.
Argitaratua: (2009)

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
nork: Gasperíková, D, et al.
Argitaratua: (2009)

Hyperinsulinemic hypoglycemia subtype glucokinase V91L mutant induces necrosis in β-cells via ATP depletion
nork: Brian Lu, et al.
Argitaratua: (2019-03-01)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
nork: Beer, N, et al.
Argitaratua: (2010)

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
nork: Gloyn, A, et al.
Argitaratua: (2003)

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
nork: Gloyn, A, et al.
Argitaratua: (2007)

Persistent hyperinsulinemic hypoglycaemia in a 7 yr old girl due to a novel activating glucokinase mutation
nork: Wabitsch, M, et al.
Argitaratua: (2006)

Octreotide-Treated Diabetes Accompanied by Endogenous Hyperinsulinemic Hypoglycemia and Protein-Losing Gastroenteropathy
nork: Nobuhiko Takahashi, et al.
Argitaratua: (2011-01-01)

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
nork: Marina Capuano, et al.
Argitaratua: (2012-01-01)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
nork: Gloyn, A, et al.
Argitaratua: (2006)

Comment on persistent hyperinsulinemic hypoglycemia of infancy
nork: G P Prashanth, et al.
Argitaratua: (2013-01-01)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
nork: Chakera, A, et al.
Argitaratua: (2014)

The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
nork: Beer, N, et al.
Argitaratua: (2011)

Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
nork: E. A. Sechko, et al.
Argitaratua: (2022-05-01)

Diazoxide for Neonatal Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension
nork: Shoshana Newman-Lindsay, et al.
Argitaratua: (2022-12-01)

POSTPRANDIAL HYPERINSULINEMIC HYPOGLYCEMIA AFTER BARIATRIC SURGERY
nork: María Graciela Álvarez, et al.
Argitaratua: (2019-06-01)

Hyperinsulinemic hypoglycemia in adolescents: case report and systematic review
nork: M. G. Castillo-López, et al.
Argitaratua: (2022-03-01)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
nork: Raimondo, A, et al.
Argitaratua: (2014)

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
nork: Gloyn, A, et al.
Argitaratua: (2005)

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
nork: Flanagan, SE, et al.
Argitaratua: (2009)

Altered Serum Amino Acid and Acylcarnitine Profiles in Hyperinsulinemic Hypoglycemia and Ketotic Hypoglycemia
nork: Zhen-Ran Xu, et al.
Argitaratua: (2020-10-01)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
nork: Mina Mısırlıgil, et al.
Argitaratua: (2021-12-01)

Clinical Features and Causes of Endogenous Hyperinsulinemic Hypoglycemia in Korea
nork: Chang-Yun Woo, et al.
Argitaratua: (2015-04-01)