Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI).
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Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stabilityMolecular physiology of mammalian glucokinaseInsights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cisGlucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South ItalyIdentification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.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.Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humansGeneration of N-ethyl-N-nitrosourea (ENU) diabetes models in mice demonstrates genotype-specific action of glucokinase activators.GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.Association with nitric oxide synthase on insulin secretory granules regulates glucokinase protein levels.GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.SUMOylation of pancreatic glucokinase regulates its cellular stability and activityWhen is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.Susceptibility of glucokinase-MODY mutants to inactivation by oxidative stress in pancreatic β-cells.Glucokinase thermolability and hepatic regulatory protein binding are essential factors for predicting the blood glucose phenotype of missense mutations.
P2860
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P2860
Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI).
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Cell-biological assessment of ...... ked hyperinsulinaemia (GK-HI).
@en
type
label
Cell-biological assessment of ...... ked hyperinsulinaemia (GK-HI).
@en
prefLabel
Cell-biological assessment of ...... ked hyperinsulinaemia (GK-HI).
@en
P2093
P2860
P1433
P1476
Cell-biological assessment of ...... ked hyperinsulinaemia (GK-HI).
@en
P2093
C W Buettger
F M Matschinsky
S J McClane
P2860
P304
P356
10.1042/0264-6021:3420345
P407
P478
342 ( Pt 2)
P577
1999-09-01T00:00:00Z