Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion
about
The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose loadAldo-keto Reductase 1B15 (AKR1B15): a mitochondrial human aldo-keto reductase with activity toward steroids and 3-keto-acyl-CoA conjugatesHyperinsulinemic Hypoglycemia - The Molecular MechanismsThe Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and diseaseMacrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A geneSpecificity in beta cell expression of L-3-hydroxyacyl-CoA dehydrogenase, short chain, and potential role in down-regulating insulin releaseAltered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder.Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretionInsulin secretion and insulin-producing tumorsDiazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegenerationMolecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia.Foxa1 and Foxa2 maintain the metabolic and secretory features of the mature beta-cellThe effect of FOXA2 rs1209523 on glucose-related phenotypes and risk of type 2 diabetes in Danish individuals.Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenaseShort-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathwaysMAFA controls genes implicated in insulin biosynthesis and secretionGenome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigreesSirt3 promotes the urea cycle and fatty acid oxidation during dietary restrictionDimerization interface of 3-hydroxyacyl-CoA dehydrogenase tunes the formation of its catalytic intermediate.Hyperinsulinism in infancy: from basic science to clinical disease.Mitochondrial beta-oxidation.Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.Hypoglycaemia related to inherited metabolic diseases in adultsGenotype and phenotype correlations in 417 children with congenital hyperinsulinismRecent advances in hyperinsulinemic hypoglycemia of infancy.Molecular mechanisms of neonatal hyperinsulinism.Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism DisordersPrematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.The molecular mechanisms, diagnosis and management of congenital hyperinsulinismThe Hypoglycemic Phenotype Is Islet Cell-Autonomous in Short-Chain Hydroxyacyl-CoA Dehydrogenase-Deficient Mice.Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits.Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy.Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.
P2860
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P2860
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@ast
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@en
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@nl
type
label
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@ast
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@en
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@nl
prefLabel
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@ast
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@en
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@nl
P2093
P2860
P3181
P1476
Hyperinsulinism in short-chain ...... oxidation in insulin secretion
@en
P2093
A Aynsley-Green
H E Malingre
I E van den Berg
M Edginton
P T Clayton
S Krywawych
P2860
P304
P3181
P356
10.1172/JCI11294
10.1172/JCI200111294
P407
P577
2001-08-01T00:00:00Z