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Article

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.

The Journal of biological chemistry - 28 Nov 2003

Pedersen Christina Bak, Bross Peter, Winter Vibeke Stenbroen, Corydon Thomas Juhl, Bolund Lars, Bartlett Kim, Vockley Jerry, Gregersen Niels

Abstract excerpt

Short chain acyl-CoA dehydrogenase (SCAD) deficiency is an inborn error of the mitochondrial fatty acid metabolism caused by rare variations as well as common susceptibility variations in the SCAD gene. Earlier studies have shown that a common variant SCAD protein (R147W) was impaired in folding, and preliminary experiments suggested that the variant protein displayed prolonged association with chaperonins and...

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PMID: 14506246
DOI: 10.1074/jbc.M309514200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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