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.
Pedersen, Christina B
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] - Human genetics Aug 2008 - 43-56 p. digital
Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
1432-1203
10.1007/s00439-008-0521-9 doi
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
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] - Human genetics Aug 2008 - 43-56 p. digital
Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
1432-1203
10.1007/s00439-008-0521-9 doi
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