Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.
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A human homologue of Escherichia coli ClpP caseinolytic protease: recombinant expression, intracellular processing and subcellular localizationDifferent spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemiaGlutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patientsImmunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial importMolecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemiaMolecular 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 deficiencyNucleotide 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 mutationBiosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability.Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneityOrganic acidurias: a review. Part 2.Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.Clinical variability of isovaleric acidemia in a genetically homogeneous population.
P2860
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P2860
Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 1985
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Molecular heterogeneity of var ...... ovaleric acidemia fibroblasts.
@en
Molecular heterogeneity of var ...... ovaleric acidemia fibroblasts.
@nl
type
label
Molecular heterogeneity of var ...... ovaleric acidemia fibroblasts.
@en
Molecular heterogeneity of var ...... ovaleric acidemia fibroblasts.
@nl
prefLabel
Molecular heterogeneity of var ...... ovaleric acidemia fibroblasts.
@en
Molecular heterogeneity of var ...... ovaleric acidemia fibroblasts.
@nl
P2093
P2860
P356
P1476
Molecular heterogeneity of var ...... ovaleric acidemia fibroblasts.
@en
P2093
P2860
P304
P356
10.1073/PNAS.82.20.7081
P407
P577
1985-10-01T00:00:00Z