Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency
about
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patientsStructural organization of the human short-chain acyl-CoA dehydrogenase geneShort-chain acyl-coenzyme A dehydrogenase deficiencyTargeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidationIdentification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency.Inborn errors of mitochondrial fatty acid oxidation.Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutationShort chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability.Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligandsA rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).Cloning, sequencing, and expression of clustered genes encoding beta-hydroxybutyryl-coenzyme A (CoA) dehydrogenase, crotonase, and butyryl-CoA dehydrogenase from Clostridium acetobutylicum ATCC 824Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation.Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase geneHomozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouseCompound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Characterization of the desulfurization genes from Rhodococcus sp. strain IGTS8.Mitochondrial short-chain acyl-CoA dehydrogenase of human liver and kidney can function as an oxidase.Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.
P2860
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P2860
Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency
description
1989 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1989
@ast
im Mai 1989 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
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vedecký článok (publikovaný 1989/05/01)
@sk
vědecký článek publikovaný v roce 1989
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wetenschappelijk artikel (gepubliceerd op 1989/05/01)
@nl
наукова стаття, опублікована в травні 1989
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научни чланак (објављен 1989/05/01)
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name
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@ast
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@en
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@nl
type
label
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@ast
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@en
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@nl
prefLabel
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@ast
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@en
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@nl
P2093
P2860
P356
P1476
Molecular cloning and nucleoti ...... yme A dehydrogenase deficiency
@en
P2093
P2860
P304
P356
10.1172/JCI114058
P407
P577
1989-05-01T00:00:00Z