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The I424S and A427D SQSTmutationsons affect ubiquitin-binding and NF-κB signalling.
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Surprisingly, these mutations also affected ubiquitin-binding, suggesting that they have a broad effect on UBXN7 function, possibly by altering the overall structure of the protein.
As the parkin mutations affect a ubiquitin E3 ligase, the field focuses on proteasome inhibition, attempting to identify parkin's substrates and to nominate the toxic species.
Two in-frame insertion mutations affect the phosphate-binding loop (codon 10 16) of KRAS are identified.
These mutations affect the DNA-binding stability of WT1 to the target gene [ 73].
Mutations affect individual genes or binding sites or stretches of genome.
We examined whether NR2E3 mutations affected DNA-binding.
SNAP identified mutations altering agonist binding and expression better than mutations affecting antagonist binding and constitutive activity (Supplemental Table 2).
Here we report that a group of mutations affecting various ubiquitin-conjugating enzymes cause significant GSCs loss, including Plenty of SH3s (POSH ), Ubiquitin-conjugating enzyme 10 (UbcD10 ), and pineapple eye (pie ).
Most p53 mutations were hemizygous missense mutations affecting the DNA-binding domain of p53.
The major cause of RTT are mutations affecting the methyl-CpG binding protein 2 (MEcodingodingenene [1].
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