Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli (Q24316978)

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English	Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli	scientific article

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scholarly article

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Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli (English)

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Escherichia coli

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Acyl-CoA dehydrogenase medium chain

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GOA release 2020-03-11

medium-chain-acyl-CoA dehydrogenase activity

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GOA release 2020-03-11

medium chain acyl-CoA dehydrogenase deficiency

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author name string

N Gregersen

1

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B S Andresen

2

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P Bross

3

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V Winter

4

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N Rüdiger

5

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S Engst

6

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E Christensen

7

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D Kelly

8

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A W Strauss

9

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S Kølvraa

10

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language of work or name

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publication date

April 1991

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86

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6

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545-51

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In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

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Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase

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Non-ketotic C6-C10-dicarboxylic aciduria: biochemical investigations of two cases

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Improved methods for the detection of unique sequences in Southern blots of mammalian DNA by non-radioactive biotinylated DNA hybridization probes

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Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing

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Structure of the medium-chain acyl-CoA dehydrogenase from pig liver mitochondria at 3-A resolution

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The effect of replication errors on the mismatch analysis of PCR-amplified DNA.

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The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies

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2-octynoyl coenzyme A is a mechanism-based inhibitor of pig kidney medium-chain acyl coenzyme A dehydrogenase: isolation of the target peptide

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“Western Blotting”: Electrophoretic transfer of proteins from sodium dodecyl sulfate-polyacrylamide gels to unmodified nitrocellulose and radiographic detection with antibody and radioiodinated protein A

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Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

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Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli

1 reference

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Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1

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Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency

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Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue

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General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases

1 reference

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Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

1 reference

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Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts

1 reference

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Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1902818

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Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

1 reference

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In vitro translation, mitochondrial uptake and post-translational processing of four acyl-CoA dehydrogenases

1 reference

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Identifiers

10.1007/BF00201539

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Dimensions Publication ID

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release_5trgaeu4hvhqldxyg2hhlrcht4

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https://api.fatcat.wiki/v0/release/5trgaeu4hvhqldxyg2hhlrcht4

24 November 2022

based on heuristic

mapped directly with Wikidata item

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Springer Nature article ID

10.1007/bf00201539

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