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Modified human acidic sphingomyelinase with increased activity and method for producing the same
Modified human acidic sphingomyelinase with increased activity and method for producing the same
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机译:具有增加的活性的修饰的人酸性鞘磷脂酶及其制备方法
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摘要
Deficiencies in the enzymatic activity of acid sphingomyelinase (ASM) result in Niemann-Pick disease. A variety of modifications which eliminate the activity of the free thiol on the C-terminal cysteine residue of ASM all result in substantially increased specific activity of the enzyme. Methods used to alter the activity of this residue include site-directed mutagenesis to delete or alter the residue, enzymatic degradation of the ASM to remove the residue, copper-promoted dimerization of ASM (via the terminal cysteine residues) and chemical modification of the free thiol group on this residue.
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