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...

Повний опис

Бібліографічні деталі
Автори:	Osbak, K, Colclough, K, Saint-Martin, C, Beer, N, Bellanné-Chantelot, C, Ellard, S, Gloyn, A
Формат:	Journal article
Мова:	English
Опубліковано:	2009

Схожі ресурси

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

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
за авторством: Thomson, K, та інші
Опубліковано: (2003)

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
за авторством: Beer, N, та інші
Опубліковано: (2011)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
за авторством: Turkkahraman, D, та інші
Опубліковано: (2008)

Persistent hyperinsulinemic hypoglycemia in a 7 yr old girl due to a novel activating glucokinase mutation
за авторством: Lahr, G, та інші
Опубліковано: (2007)

Hyperinsulinemic hypoglycemia, clinical considerations and a case report of a novel GCK mutation
за авторством: Michelle Kraslow, та інші
Опубліковано: (2021-06-01)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
за авторством: Gasperikova, D, та інші
Опубліковано: (2008)

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis
за авторством: Yasmin Abu Aqel, та інші
Опубліковано: (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.
за авторством: Christesen, H, та інші
Опубліковано: (2008)

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges
за авторством: José Timsit, та інші
Опубліковано: (2022-01-01)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
за авторством: Gloyn, A, та інші
Опубліковано: (2007)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
за авторством: Gloyn, A, та інші
Опубліковано: (2002)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
за авторством: Li, Xiuzhen, та інші
Опубліковано: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
за авторством: Xiuzhen Li, та інші
Опубліковано: (2018-03-01)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
за авторством: Valentinova, L, та інші
Опубліковано: (2011)

Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations
за авторством: Arianna Maiorana, та інші
Опубліковано: (2021-10-01)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
за авторством: Gloyn, A, та інші
Опубліковано: (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
за авторством: Gasperikova, D, та інші
Опубліковано: (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.
за авторством: Gasperíková, D, та інші
Опубліковано: (2009)

Hyperinsulinemic hypoglycemia subtype glucokinase V91L mutant induces necrosis in β-cells via ATP depletion
за авторством: Brian Lu, та інші
Опубліковано: (2019-03-01)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
за авторством: Beer, N, та інші
Опубліковано: (2010)

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
за авторством: Gloyn, A, та інші
Опубліковано: (2003)

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
за авторством: Gloyn, A, та інші
Опубліковано: (2007)

Persistent hyperinsulinemic hypoglycaemia in a 7 yr old girl due to a novel activating glucokinase mutation
за авторством: Wabitsch, M, та інші
Опубліковано: (2006)

Octreotide-Treated Diabetes Accompanied by Endogenous Hyperinsulinemic Hypoglycemia and Protein-Losing Gastroenteropathy
за авторством: Nobuhiko Takahashi, та інші
Опубліковано: (2011-01-01)

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
за авторством: Marina Capuano, та інші
Опубліковано: (2012-01-01)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
за авторством: Gloyn, A, та інші
Опубліковано: (2006)

Comment on persistent hyperinsulinemic hypoglycemia of infancy
за авторством: G P Prashanth, та інші
Опубліковано: (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
за авторством: Chakera, A, та інші
Опубліковано: (2014)

The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
за авторством: Beer, N, та інші
Опубліковано: (2011)

Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
за авторством: E. A. Sechko, та інші
Опубліковано: (2022-05-01)

Diazoxide for Neonatal Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension
за авторством: Shoshana Newman-Lindsay, та інші
Опубліковано: (2022-12-01)

POSTPRANDIAL HYPERINSULINEMIC HYPOGLYCEMIA AFTER BARIATRIC SURGERY
за авторством: María Graciela Álvarez, та інші
Опубліковано: (2019-06-01)

Hyperinsulinemic hypoglycemia in adolescents: case report and systematic review
за авторством: M. G. Castillo-López, та інші
Опубліковано: (2022-03-01)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
за авторством: Raimondo, A, та інші
Опубліковано: (2014)

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
за авторством: Gloyn, A, та інші
Опубліковано: (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.
за авторством: Flanagan, SE, та інші
Опубліковано: (2009)

Altered Serum Amino Acid and Acylcarnitine Profiles in Hyperinsulinemic Hypoglycemia and Ketotic Hypoglycemia
за авторством: Zhen-Ran Xu, та інші
Опубліковано: (2020-10-01)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
за авторством: Mina Mısırlıgil, та інші
Опубліковано: (2021-12-01)

Clinical Features and Causes of Endogenous Hyperinsulinemic Hypoglycemia in Korea
за авторством: Chang-Yun Woo, та інші
Опубліковано: (2015-04-01)