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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Beer, N, Tribble, N, McCulloch, L, Roos, C, Johnson, P, Orho-Melander, M, Gloyn, A
التنسيق:	Journal article
اللغة:	English
منشور في:	Oxford University Press 2009

مواد مشابهة

Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
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Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk
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منشور في: (2011)

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.
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منشور في: (2012)

The GCKR-P446L gene variant predisposes to raised blood cholesterol and lower blood glucose in the P446L mouse-a model for GCKR rs1260326
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منشور في: (2023-06-01)

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.
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Evolution of hepatic glucose metabolism: liver-specific glucokinase deficiency explained by parallel loss of the gene for glucokinase regulatory protein (GCKR).
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منشور في: (2013-01-01)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
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Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
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Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
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Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
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منشور في: (2007)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
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Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
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The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
حسب: Beer, N, وآخرون
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Insights into glucokinase regulatory protein regulation from the cellular and kinetic characterisation of rare coding variants
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Functional analysis of GCKR mutations identified in subjects with hypertriglyceridaemia demonstrates the inherent challenges in clinical interpretation of rare variants
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Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes
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Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
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TMG-123, a novel glucokinase activator, exerts durable effects on hyperglycemia without increasing triglyceride in diabetic animal models.
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Effects of GCK, GCKR, G6PC2 and MTNR1B variants on glucose metabolism and insulin secretion.
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منشور في: (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.
حسب: Edghill, E, وآخرون
منشور في: (2009)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
حسب: Turkkahraman, D, وآخرون
منشور في: (2008)

A comprehensive map of human glucokinase variant activity
حسب: Sarah Gersing, وآخرون
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Effects of genetic variants in ADCY5, GIPR, GCKR and VPS13C on early impairment of glucose and insulin metabolism in children.
حسب: Jan Windholz, وآخرون
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Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
حسب: Lucia Valentínová, وآخرون
منشور في: (2012-01-01)

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
حسب: Rees, MG, وآخرون
منشور في: (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.
حسب: Haoran Wang, وآخرون
منشور في: (2013-01-01)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
حسب: Rees, MG, وآخرون
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Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
حسب: Osbak, K, وآخرون
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α-cell glucokinase suppresses glucose-regulated glucagon secretion
حسب: Basco, D, وآخرون
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α-cell glucokinase suppresses glucose-regulated glucagon secretion
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منشور في: (2018-02-01)

Clinical investigation of glucokinase activators for the restoration of glucose homeostasis in diabetes
حسب: Ping Li, وآخرون
منشور في: (2024-05-01)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
حسب: Matthew G Rees, وآخرون
منشور في: (2014-01-01)

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
حسب: Rees, MG, وآخرون
منشور في: (2013)

Small molecular glucokinase activators: Has another new anti-diabetic therapeutic lost favour?
حسب: Rees, MG, وآخرون
منشور في: (2014)

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

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
حسب: Christesen, H, وآخرون
منشور في: (2008)

GCKR gene functional variants in type 2 diabetes and metabolic syndrome: do the rare variants associate with increased carotid intima-media thickness?
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A glucokinase-linked sensor in the taste system contributes to glucose appetite
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Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
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