Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.

Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.

Mutations in the glucokinase (GK) gene cause defects in blood glucose homeostasis. In some cases (V62M and G72R), the phenotype cannot be explained by altered enzyme kinetics or protein instability. We used transient and stable expression of green fluorescent protein (GFP) GK chimaeras in MIN6 beta-...

Bibliográfalaš dieđut
Váldodahkkit:	Arden, C, Trainer, A, de la Iglesia, N, Scougall, K, Gloyn, A, Lange, A, Shaw, J, Matschinsky, F, Agius, L
Materiálatiipa:	Journal article
Giella:	English
Almmustuhtton:	2007

Geahča maid

Catalytic instability of the glucokinase MODY-2 mutants V62M and G72R in pancreatic beta cells
Dahkki: Arden, C, et al.
Almmustuhtton: (2006)

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

Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations
Dahkki: Gloyn, A, et al.
Almmustuhtton: (2003)

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

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

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Dahkki: Gloyn, A, et al.
Almmustuhtton: (2006)

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

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
Dahkki: Rees, MG, et al.
Almmustuhtton: (2014)

NGF effects promote the maturation of rat pancreatic beta cells by regulating GLUT2 levels and distribution, and glucokinase activity.
Dahkki: Jazmín Samario-Román, et al.
Almmustuhtton: (2024-01-01)

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

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
Dahkki: Ding, S, et al.
Almmustuhtton: (2010)

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
Dahkki: Rees, MG, et al.
Almmustuhtton: (2013)

Small molecular glucokinase activators: Has another new anti-diabetic therapeutic lost favour?
Dahkki: Rees, MG, et al.
Almmustuhtton: (2014)

Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
Dahkki: Beer, N, et al.
Almmustuhtton: (2009)

α-cell glucokinase suppresses glucose-regulated glucagon secretion
Dahkki: Basco, D, et al.
Almmustuhtton: (2018)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
Dahkki: Tribble, N, et al.
Almmustuhtton: (2009)

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

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
Dahkki: Matthew G Rees, et al.
Almmustuhtton: (2014-01-01)

Association of glucokinase, glucokinase regulator, glucose-6-phosphatase catalytic subunit 2 and melatonin receptor 1b genes polymorphisms with type 2 diabetic subjects
Dahkki: Ansari, Neda
Almmustuhtton: (2020)

Meaux (Seine-et-Marne). 62-72, rue Saint-Faron
Dahkki: David Couturier
Almmustuhtton: (2004-10-01)

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.
Dahkki: Flanagan, SE, et al.
Almmustuhtton: (2009)

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

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
Dahkki: van de Bunt, M, et al.
Almmustuhtton: (2008)

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

Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).
Dahkki: Gloyn, A, et al.
Almmustuhtton: (2001)

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

Screening for mutations in the Kir6.2 subunit of the beta-cell K-ATP channel
Dahkki: Sakura, H, et al.
Almmustuhtton: (1996)

Kir6.2-dependent high-affinity repaglinide binding to beta-cell K(ATP) channels.
Dahkki: Hansen, A, et al.
Almmustuhtton: (2005)

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

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

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
Dahkki: Gloyn, A, et al.
Almmustuhtton: (2004)

Conformational transition pathway of R308K mutant glucokinase in the presence of the glucokinase activator YNKGKA4
Dahkki: Nanda Kumar Yellapu, et al.
Almmustuhtton: (2018-08-01)

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

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
Dahkki: Valentinova, L, et al.
Almmustuhtton: (2012)

Insights into glucokinase regulatory protein regulation from the cellular and kinetic characterisation of rare coding variants
Dahkki: Rees, MG, et al.
Almmustuhtton: (2010)

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

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.
Dahkki: Girard, C, et al.
Almmustuhtton: (2009)

Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biology
Dahkki: Beer, N, et al.
Almmustuhtton: (2016)

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Dahkki: Osbak, K, et al.
Almmustuhtton: (2009)

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