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-...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Arden, C, Trainer, A, de la Iglesia, N, Scougall, K, Gloyn, A, Lange, A, Shaw, J, Matschinsky, F, Agius, L
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	2007

Những quyển sách tương tự

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

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

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

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

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

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

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

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

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

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

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
Bằng: Ding, S, et al.
Được phát hành: (2010)

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

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

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

α-cell glucokinase suppresses glucose-regulated glucagon secretion
Bằng: Basco, D, et al.
Được phát hành: (2018)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
Bằng: Tribble, N, et al.
Được phát hành: (2009)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
Bằng: Gloyn, A, et al.
Được phát hành: (2002)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
Bằng: Matthew G Rees, et al.
Được phát hành: (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
Bằng: Ansari, Neda
Được phát hành: (2020)

Meaux (Seine-et-Marne). 62-72, rue Saint-Faron
Bằng: David Couturier
Được phát hành: (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.
Bằng: Flanagan, SE, et al.
Được phát hành: (2009)

The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
Bằng: Beer, N, et al.
Được phát hành: (2011)

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

Persistent hyperinsulinemic hypoglycemia in a 7 yr old girl due to a novel activating glucokinase mutation
Bằng: Lahr, G, et al.
Được phát hành: (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).
Bằng: Gloyn, A, et al.
Được phát hành: (2001)

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

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

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

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

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
Bằng: Gloyn, A, et al.
Được phát hành: (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.
Bằng: Gloyn, A, et al.
Được phát hành: (2004)

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

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

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

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

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

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

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

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

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