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Article

Expression and characterization of human mutant (glutamic acid304) medium-chain acyl-coenzyme A dehydrogenase in mammalian cells.

Pediatric research - 1 Nov 1993

Whelan A J, Strauss A W, Hale D E, Mendelsohn N J, Kelly D P

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a frequent and sometimes fatal inherited metabolic disorder of fatty acid beta-oxidation. A eukaryotic expression system was used to study naturally occurring mutations in MCAD. The 1263 nucleotide coding region of human MCAD cDNA was inserted downstream of the SV40 early promoter for high-level expression in Chinese hamster ovary cells. Both normal MCAD...

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Identifiers

PMID: 8284112
DOI: 10.1203/00006450-199311000-00025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Expression and characterization of human mutant (glutamic acid304) medium-chain acyl-coenzyme A dehydrogenase in mammalian cells.PMID 8284112Read ↗

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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.Semantic proximity Read ↗

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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 mutation.Semantic proximity Read ↗

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