Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Volume 1812, Issue 6, June 2011, Pages 685-690
The molecular basis of aminoacylase 1 deficiency
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Research highlights
► Clinical and biochemical data on aminoacylase 1 (ACY1) deficiency are expanded. ► Transient overexpression of all known mutations underlying ACY1 deficiency. ► Most mutations result in nearly complete loss of enzyme function. ► Newly discovered mutations yield considerable residual activity of the enzyme. ► Intramolecular localizations and molecular characteristics can explain residual activities.
Keywords
Amidohydrolase
Organic acid
Inborn error of metabolism
N-acetyl amino acid
N-acetyl methionine
N-acetyl glutamic acid
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