The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. [electronic resource]
Producer: 20080730Description: 43-56 p. digitalISSN:- 1432-1203
- Animals
- Butyryl-CoA Dehydrogenase -- chemistry
- Dimerization
- Enzyme Activation -- genetics
- Gene Frequency
- Humans
- Malonates -- metabolism
- Metabolism, Inborn Errors -- enzymology
- Mice
- Mice, Inbred BALB C
- Mice, Knockout
- Models, Molecular
- Mutation, Missense -- physiology
- Polymorphism, Single Nucleotide
- Protein Binding
- Protein Folding
- Structure-Activity Relationship
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Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
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