The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.

Genome-wide association studies have identified a number of signals for both Type 2 Diabetes and related quantitative traits. For the majority of loci, the transition from association signal to mutational mechanism has been difficult to establish. Glucokinase (GCK) regulates glucose storage and disp...

Ամբողջական նկարագրություն

Մատենագիտական մանրամասներ
Հիմնական հեղինակներ:	Beer, N, Tribble, N, McCulloch, L, Roos, C, Johnson, P, Orho-Melander, M, Gloyn, A
Ձևաչափ:	Journal article
Լեզու:	English
Հրապարակվել է:	Oxford University Press 2009

Նմանատիպ նյութեր

Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
‌: Beer, N, և այլն
Հրապարակվել է: (2009)

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk
‌: Rees, MG, և այլն
Հրապարակվել է: (2011)

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.
‌: Rees, MG, և այլն
Հրապարակվել է: (2012)

The GCKR-P446L gene variant predisposes to raised blood cholesterol and lower blood glucose in the P446L mouse-a model for GCKR rs1260326
‌: Brian E. Ford, և այլն
Հրապարակվել է: (2023-06-01)

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.
‌: Rees, MG, և այլն
Հրապարակվել է: (2014)

Evolution of hepatic glucose metabolism: liver-specific glucokinase deficiency explained by parallel loss of the gene for glucokinase regulatory protein (GCKR).
‌: Zhao Yang Wang, և այլն
Հրապարակվել է: (2013-01-01)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
‌: Tribble, N, և այլն
Հրապարակվել է: (2009)

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
‌: Ding, S, և այլն
Հրապարակվել է: (2010)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
‌: Valentinova, L, և այլն
Հրապարակվել է: (2011)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
‌: Gloyn, A, և այլն
Հրապարակվել է: (2007)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
‌: Beer, N, և այլն
Հրապարակվել է: (2010)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
‌: Gloyn, A, և այլն
Հրապարակվել է: (2008)

The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
‌: Beer, N, և այլն
Հրապարակվել է: (2011)

Insights into glucokinase regulatory protein regulation from the cellular and kinetic characterisation of rare coding variants
‌: Rees, MG, և այլն
Հրապարակվել է: (2010)

Functional analysis of GCKR mutations identified in subjects with hypertriglyceridaemia demonstrates the inherent challenges in clinical interpretation of rare variants
‌: Raimondo, A, և այլն
Հրապարակվել է: (2012)

Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes.
‌: Guanjie Chen, և այլն
Հրապարակվել է: (2022-01-01)

Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes
‌: Guanjie Chen, և այլն
Հրապարակվել է: (2022-01-01)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
‌: Valentinova, L, և այլն
Հրապարակվել է: (2012)

TMG-123, a novel glucokinase activator, exerts durable effects on hyperglycemia without increasing triglyceride in diabetic animal models.
‌: Yoshinori Tsumura, և այլն
Հրապարակվել է: (2017-01-01)

Effects of GCK, GCKR, G6PC2 and MTNR1B variants on glucose metabolism and insulin secretion.
‌: Cheng Hu, և այլն
Հրապարակվել է: (2010-07-01)

Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction.
‌: Edghill, E, և այլն
Հրապարակվել է: (2009)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
‌: Turkkahraman, D, և այլն
Հրապարակվել է: (2008)

A comprehensive map of human glucokinase variant activity
‌: Sarah Gersing, և այլն
Հրապարակվել է: (2023-04-01)

Effects of genetic variants in ADCY5, GIPR, GCKR and VPS13C on early impairment of glucose and insulin metabolism in children.
‌: Jan Windholz, և այլն
Հրապարակվել է: (2011-01-01)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
‌: Lucia Valentínová, և այլն
Հրապարակվել է: (2012-01-01)

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
‌: Rees, MG, և այլն
Հրապարակվել է: (2012)

Large scale meta-analyses of fasting plasma glucose raising variants in GCK, GCKR, MTNR1B and G6PC2 and their impacts on type 2 diabetes mellitus risk.
‌: Haoran Wang, և այլն
Հրապարակվել է: (2013-01-01)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
‌: Rees, MG, և այլն
Հրապարակվել է: (2014)

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
‌: Osbak, K, և այլն
Հրապարակվել է: (2009)

α-cell glucokinase suppresses glucose-regulated glucagon secretion
‌: Basco, D, և այլն
Հրապարակվել է: (2018)

α-cell glucokinase suppresses glucose-regulated glucagon secretion
‌: Davide Basco, և այլն
Հրապարակվել է: (2018-02-01)

Clinical investigation of glucokinase activators for the restoration of glucose homeostasis in diabetes
‌: Ping Li, և այլն
Հրապարակվել է: (2024-05-01)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
‌: Matthew G Rees, և այլն
Հրապարակվել է: (2014-01-01)

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
‌: Rees, MG, և այլն
Հրապարակվել է: (2013)

Small molecular glucokinase activators: Has another new anti-diabetic therapeutic lost favour?
‌: Rees, MG, և այլն
Հրապարակվել է: (2014)

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

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
‌: Christesen, H, և այլն
Հրապարակվել է: (2008)

GCKR gene functional variants in type 2 diabetes and metabolic syndrome: do the rare variants associate with increased carotid intima-media thickness?
‌: Hetyésy Katalin, և այլն
Հրապարակվել է: (2010-11-01)

A glucokinase-linked sensor in the taste system contributes to glucose appetite
‌: Sandrine Chometton, և այլն
Հրապարակվել է: (2022-10-01)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
‌: Gloyn, A, և այլն
Հրապարակվել է: (2002)