Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A456V
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GCK

NM_000162.5:p.A456V

Associated Papers

Treatment of Congenital Hyperinsulinism With a Novel, Long-acting Glucagon Analogue.

Cannon M et al.

Jcem Case Reports, 2025

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.

Velde CD et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Comparison of Variants of Uncertain Significance in Three Regions of the Human Glucokinase Protein Using In Vitro and In Silico Analyses.

Gay C et al.

Cureus, 2024

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Genome Biology, 2024

38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM2_ESM.xlsx › abundance_scores

Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients.

Cho J et al.

International Journal of Molecular Sciences, 2023

37958824 (PubMed )
Supplement: ijms-24-15842-s001.zip › ijms-2650363-supplementary.pdf

Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS): Review of the Literature of a Rare Cause of Hyperinsulinemic Hypoglycemia.

Dieterle MP et al.

Biomedicines, 2023

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Biorxiv : the Preprint Server for Biology, 2023

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.

Hopkins JJ et al.

Human Mutation, 2023

40225155 (PubMed )
Supplement: 8857940.f1.pdf

Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.

Boodhansingh KE et al.

European Journal of Endocrinology, 2022

The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes.

Langer S et al.

Diabetologia, 2021

34532767 (PubMed )
Supplement: 125_2021_5553_MOESM1_ESM.pdf

Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg).

Gilis-Januszewska A et al.

Genes, 2021

Clinical implications of the glucokinase impaired function - GCK MODY today.

Hulín J et al.

Physiological Research, 2020

L-Arginine prevents cereblon-mediated ubiquitination of glucokinase and stimulates glucose-6-phosphate production in pancreatic β-cells.

Cho J et al.

Communications Biology, 2020

Nanosecond-Timescale Dynamics and Conformational Heterogeneity in Human GCK Regulation and Disease.

Sternisha SM et al.

Biophysical Journal, 2020

Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase-activating mutations: A report of two cases and a brief overview of the literature.

Ping F et al.

Journal of Diabetes Investigation, 2019

Nitric Oxide Activates β-Cell Glucokinase by Promoting Formation of the "Glucose-Activated" State.

Seckinger KM et al.

Biochemistry, 2018

Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase.

Gutierrez-Nogués A et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes.

Lu M et al.

Annals of the New York Academy of Sciences, 2018

Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia.

Geilswijk M et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2017

[Actual trends in diagnostics and treatment of congenital hyperinsulinism].

Staník J et al.

Vnitrni Lekarstvi, 2016

Association of the glucokinase gene promoter polymorphism -30G > A (rs1799884) with gestational diabetes mellitus susceptibility: a case-control study and meta-analysis.

Han X et al.

Archives of Gynecology and Obstetrics, 2015

Molecular mechanisms of congenital hyperinsulinism.

Rahman SA et al.

Journal of Molecular Endocrinology, 2015

Glucokinase activity in the arcuate nucleus regulates glucose intake.

Hussain S et al.

The Journal of Clinical Investigation, 2015

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.

Challis BG et al.

Clinical Endocrinology, 2014

Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.

Gao R et al.

Bmc Genetics, 2014

24476040 (PubMed )
Supplement: 1471-2156-15-13-S1.docx

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf

A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugs.

Shammas C et al.

Metabolism: Clinical and Experimental, 2013

Conformational transition pathway in the activation process of allosteric glucokinase.

Huang M et al.

Plos One, 2013

Mutational analysis of allosteric activation and inhibition of glucokinase.

Zelent B et al.

The Biochemical Journal, 2011

Generation of N-ethyl-N-nitrosourea (ENU) diabetes models in mice demonstrates genotype-specific action of glucokinase activators.

Fenner D et al.

The Journal of Biological Chemistry, 2011

Crystal structure of E339K mutated human glucokinase reveals changes in the ATP binding site.

Liu Q et al.

Febs Letters, 2011

Liver Glucokinase(A456V) Induces Potent Hypoglycemia without Dyslipidemia through a Paradoxical Induction of the Catalytic Subunit of Glucose-6-Phosphatase.

Vidal-Alabró A et al.

International Journal of Endocrinology, 2011

Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.

Hussain K

Reviews in Endocrine & Metabolic Disorders, 2010

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK et al.

Human Mutation, 2009

23-Residue C-terminal alpha-helix governs kinetic cooperativity in monomeric human glucokinase.

Larion M et al.

Biochemistry, 2009

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.

Sayed S et al.

Diabetes, 2009

Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type.

Ralph EC et al.

Biochemistry, 2009

Activating mutations in the human glucokinase gene revealed by genetic selection.

Pal P et al.

Biochemistry, 2009

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

Christesen HB et al.

European Journal of Endocrinology, 2008

Non-insulinoma persistent hyperinsulinaemic hypoglycaemia caused by an activating glucokinase mutation: hypoglycaemia unawareness and attacks.

Christesen HB et al.

Clinical Endocrinology, 2008

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