Associated Papers
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.
Pedersen CB et al.
The Journal of Biological Chemistry, 2003
Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenases.
Battaile KP et al.
The Journal of Biological Chemistry, 2002
The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders.
Gregersen N et al.
Journal of Inherited Metabolic Disease, 2001
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N et al.
Human Molecular Genetics, 1998
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