Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme.

doi:10.1074/jbc.270.17.10284

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Article

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme.

The Journal of biological chemistry - 28 Apr 1995

Bross P, Jespersen C, Jensen T G, Andresen B S, Kristensen M J, Winter V, Nandy A, Kräutle F, Ghisla S, Bolundi L

Abstract excerpt

We have used expression of human medium chain acyl-CoA dehydrogenase (MCAD) in Escherichia coli as a model system for dissecting the molecular effects of two mutations detected in patients with MCAD deficiency. We demonstrate that the R28C mutation predominantly affects polypeptide folding. The amounts of active R28C mutant enzyme produced could be modulated between undetectable to 100% of the wild-type control...

Topics

Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases
Bacterial Proteins
Base Sequence
Biopolymers
Cell Line, Transformed
Chaperonins
Cold Temperature
DNA Primers
Enzyme Stability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Escherichia coli Proteins

Heat-Shock Proteins

Hot Temperature

Humans

Lysine

Molecular Sequence Data

Mutation

Protein Conformation

Source

Open in PubMed

Identifiers

PMID: 7730333
DOI: 10.1074/jbc.270.17.10284

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7730333-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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