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

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

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

http://www.wikidata.org/entity/Q38293883

about

Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability Homotropic allosteric regulation in monomeric mammalian glucokinase A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.A phospho-BAD BH3 helix activates glucokinase by a mechanism distinct from that of allosteric activators Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.Thermal stability of glucokinase (GK) as influenced by the substrate glucose, an allosteric glucokinase activator drug (GKA) and the osmolytes glycerol and urea Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans Generation of N-ethyl-N-nitrosourea (ENU) diabetes models in mice demonstrates genotype-specific action of glucokinase activators.Hyperinsulinism in infancy: from basic science to clinical disease.Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.Effect of mutations on the sensitivity of human beta-cell glucokinase to liver regulatory protein.Amino acid conservation in animal glucokinases. Identification of residues implicated in the interaction with the regulatory protein.Susceptibility of glucokinase-MODY mutants to inactivation by oxidative stress in pancreatic β-cells.Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI).Structure-function analysis of the alpha5 and the alpha13 helices of human glucokinase: description of two novel activating mutations.The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions.Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2).Human pancreatic glucokinase (GlkB) complements the glucose signalling defect of Saccharomyces cerevisiae hxk2 mutants.Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.Insight into the biochemical characteristics of a novel glucokinase gene mutation.Tryptophan Fluorescence Yields and Lifetimes as a Probe of Conformational Changes in Human Glucokinase.

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P2860

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

http://www.wikidata.org/entity/Q38293883

description

1995 nî lūn-bûn

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1995年の論文

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年學術文章

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1995年學術文章

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1995年學術文章

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Variable effects of maturity-o ...... s and stability of the enzyme.

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Variable effects of maturity-o ...... s and stability of the enzyme.

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F M Matschinsky

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K Niswender

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L Q Wang

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M A Magnuson

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M A Permutt

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P Kesavan

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Y Liang

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Y Tanizawa

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P2860

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

Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus

Rapid and efficient site-specific mutagenesis without phenotypic selection

A simple graphical method for determining the inhibition constants of mixed, uncompetitive and non-competitive inhibitors

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

An ATPase domain common to prokaryotic cell cycle proteins, sugar kinases, actin, and hsp70 heat shock proteins

The determination of enzyme inhibitor constants

Effects of alternate RNA splicing on glucokinase isoform activities in the pancreatic islet, liver, and pituitary.

Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.

Analysis of upstream glucokinase promoter activity in transgenic mice and identification of glucokinase in rare neuroendocrine cells in the brain and gut.

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167-173

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10.1042/BJ3090167

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P478

309 ( Pt 1)

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7619052

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1135815

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