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ADAMTS13 deficiency may result from mutations of the encoding gene or from autoantibodies in the acquired form [1]. Autoantibodies may alter enzyme function through two nonexclusive mechanisms.
Some ways silicone oligomers and oils may alter enzyme activity include: interaction with the enzyme active site; encapsulation of the enzyme [30]; altering protein tertiary or quaternary structure by bulk interactions; and by binding of cofactors.
Positive selection among Pgi paralogues and orthologues predominately targets amino acids with residues exposed to the protein's surface, where changes in physical properties may alter enzyme performance.
A major part of carcinogenic substances require metabolic activation by enzymes to be genotoxic, and inherited variations in carcinogens metabolizing genes may alter enzyme activity and subsequently carcinogens activation or deactivation.
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Of the five, sequence comparisons show that Gln12Arg mutation is naturally present in rabbit RRS sequence (Table 5) suggesting that this mutation may not alter enzyme activity as it is tolerated in other mammals.
Functional polymorphisms in the COX-2 promoter, being −765G→C (rs20417) and −1195A→G (rs689466), may alter the enzyme function of COX-2 by differential regulation of COX-2 expression [15].
Many of the antioxidant genes are known to be polymorphic, which may alter the enzyme activity [ 1].
The loss of UCR1 (in short, super-short, truncated super-short forms) as well as segments of UCR2 (in super-short and truncated super-short) may alter PDE4 enzyme conformational states and therefore catalytic activity [ 17, 24, 25].
Systematic screening of knockout mutants of glycosylation- and protein trafficking-associated genes in S. cerevisiae revealed that: (1) blocking Golgi-to-endosome transport may force S. cerevisiae to export cellulases; and (2) both over- and under-glycosylation may alter the enzyme activity of cellulases.
These modifications can alter enzyme activity and may increase the immunogenicity of self antigens, leading to a break in immune tolerance.
It is likely that other mutations exist and that they may mediate altered enzyme activity in these individuals [32].
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