Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E300K
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GCK

NM_000162.5:p.E300K

Associated Papers

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

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Genome Biology, 2024

Quantitative profiling and diagnostic potential of one-carbon and central metabolism pools in MODY2 and T1DM.

Liu J et al.

Diabetology & Metabolic Syndrome, 2023

37875989 (PubMed )
Supplement: 13098_2023_1175_MOESM1_ESM.docx

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

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members

When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?

Üstay Ö et al.

Archives of Endocrinology and Metabolism, 2022

Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations.

Ateş EA et al.

Balkan Medical Journal, 2021

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

Glucokinase mutations in pediatric patients with impaired fasting glucose.

Aloi C et al.

Acta Diabetologica, 2017

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

Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort.

Borowiec M et al.

Clinical Genetics, 2012

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.

Negahdar M et al.

Biochimica Et Biophysica Acta, 2012

Association with nitric oxide synthase on insulin secretory granules regulates glucokinase protein levels.

Markwardt ML et al.

Molecular Endocrinology (baltimore, Md.), 2012

Thermal stability of glucokinase (GK) as influenced by the substrate glucose, an allosteric glucokinase activator drug (GKA) and the osmolytes glycerol and urea.

Zelent B et al.

Biochimica Et Biophysica Acta, 2012

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

Valentínová L et al.

Plos One, 2012

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.

Beer NL et al.

The Journal of Biological Chemistry, 2011

Insight into the biochemical characteristics of a novel glucokinase gene mutation.

Shen Y et al.

Human Genetics, 2011

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.

Bonfig W et al.

Isrn Pediatrics, 2011

[The functional analysis of glucokinase gene E339K mutation].

Shen YF et al.

Zhonghua Nei Ke Za Zhi, 2010

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

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

Arden C et al.

Diabetes, 2007

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.

García-Herrero CM et al.

Diabetologia, 2007

From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

Sagen JV et al.

Diabetes, 2006

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.

Gloyn AL et al.

The Journal of Biological Chemistry, 2005

A new mouse model of type 2 diabetes, produced by N-ethyl-nitrosourea mutagenesis, is the result of a missense mutation in the glucokinase gene.

Toye AA et al.

Diabetes, 2004

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

Gloyn AL

Human Mutation, 2003

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Njølstad PR et al.

Diabetes, 2003

Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.

Davis EA et al.

Diabetologia, 1999

Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI).

Burke CV et al.

The Biochemical Journal, 1999

Structural model of human glucokinase in complex with glucose and ATP: implications for the mutants that cause hypo- and hyperglycemia.

Mahalingam B et al.

Diabetes, 1999

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

Hattersley AT

Diabetic Medicine : a Journal of the British Diabetic Association, 1998

Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2).

Kesavan P et al.

The Biochemical Journal, 1997

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

Velho G et al.

Diabetologia, 1997

Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm.

Matschinsky FM

Diabetes, 1996

Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme.

Liang Y et al.

The Biochemical Journal, 1995

Characterization of Japanese families with early-onset type 2 (non-insulin dependent) diabetes mellitus and screening for mutations in the glucokinase and mitochondrial tRNA(Leu(UUR)) genes.

Iwasaki N et al.

Acta Diabetologica, 1995

Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B.

St Charles R et al.

Diabetes, 1994

Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.

Takeda J et al.

The Journal of Biological Chemistry, 1993

Mammalian glucokinase and its gene.

Iynedjian PB

The Biochemical Journal, 1993

Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

Gidh-Jain M et al.

Proceedings of the National Academy of Sciences of the United States of America, 1993

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."