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Although It is still unclear why antibodies directed at acetylated p53 failed to detect the acetylated species in the earlier report [31], one explanation may be conformational differences between nuclear and mitochondrial species of p53.
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The published data strongly support the hypothesis that CBS deficiency may be a conformational disease caused by misfolding of mutant enzymes.
The molecular weight for a mutant form of USP17L (C89S) is bigger than wild type USP17L, suggesting that there may be a conformational change due to the amino acid substitution.
These differences suggest that the N-terminal end of syntaxin (but not the central part and C-terminal end) is present in conformations much different than those in the crystal structure and may be sampling multiple conformational states.
Evidence suggests that TPI Deficiency pathogenesis may be due to conformational changes of the protein, likely affecting dimerization and protein stability.
PLCγ1 (phospholipase C gamma 1) can interact with activated IR in a SH2 domain-independent manner, which may be mediated by conformational changes of IR (Kwon et al., 2003).
The ensuing phenotypes may be caused by conformational changes caused by the mutations, which are entirely unrelated to phosphorylation.
This may be due to conformational changes which could occur at the septins 3, 7 and 9 when the hexamer units are formed.
These results suggested that residue F595 is also important in the constitutive signaling of JAK2 T875N and JAK2 R683G and initially to JAK2 K539L, implying that activation of catalysis by JAK mutations may be mediated by conformational changes in the JH2 αC helix.
Tyr may be involved in conformational changes during TCA transport.
From the structural point of view, conserved catalytic sites may be blocked or conformational changes may modulate their activity (UCH-L1, OTU1, USP1, USP7, USP12, and USP46).
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