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·32D cells harboring K-Ras wt and mutant forms have been previously described [19].
Vinculin is a phylogenetically conserved single-copy protein which, apart from providing unique functions during embryonal development, is essential in adult heart tissue, where it is required for long-term preservation of cardiac function [9], [15], [16], so that mutant forms have been associated in a number of studies with the occurrence of cardiomyopathies in man [34] [36].
Whereas the overexpression assays have revealed functional differences, biochemical changes in the mutant forms have not been evaluated.
Surprisingly, ALS occurs whether the mutant forms have dismutase activity or not, indicating that SOD1 toxicity is mediated through gain-of-function properties (Wang et al., 2009).
Furthermore, activation of the wild-type form depends on dimerization, while monomeric mutant forms have been shown to be active [ 16].
The crystal structures of wild-type cADO and two mutant forms have been determined with aliphatic carboxylic acids bound to the diiron center.
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To determine if the minor DCPS isoform 2, either wild-type and p.V68A mutant form, have any biological function, we compared their enzymatic activities relative to that of the major DCPS isoform 1.
By contrast, overexpression of the tyrosine mutant form had no effect on TGFβ1 activity.
The PNPLA3 mutant form has a comparable reduction in both activity and affinity for triglycerides and retinyl palmitate (30).
While this gene overlap may constrain some viral variability, mutant or variant forms have been identified for all 4 genes (2 ).
Is the apparent delocalization of MeCP2 mutant forms that have short chromatin residence times also seen at the level of ChIP?
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