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Boute et al. proposed that the p.R105W mutation might induce protein misfolding by disrupting the formation of these salt bridges [16].
However, it remained possible that Q169 mutation might induce a conformational change in hTERT that inhibited enzyme activity without compromising protein stability.
It is speculated that the mutation might induce autoimmunity by preventing the deletion of autoreactive T cells, resulting in insufficient activity in regulatory T cells.
Because flies contain all three stress response pathways (PEK, Atf6, Ire-1) while yeast only have the Ire-1-mediated response, we expected that loss of trafficking due to a p24 mutation might induce multiple ER stress-activated signaling pathways.
Furthermore, the reduction in the fully glycosylated mature 155 kDa HERG protein in the mutated hPSC-CMs and its partial rescue after treatment with the proteasome inhibitor lactacystin suggest that the mutation might induce, to some extent, protein clearance through the proteasomes, thus resulting in defective channel trafficking (Vandenberg et al, 2012).
report IDH1 mutations in a case of low grade glioma with Ollier disease; however, they did not perform mutation analyses of TP53. 9 In contrast, our case suggests that an additional acquired TP53 mutation might induce the malignant transformation in patients with Maffucci syndrome.
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In this study, we report that MSS-causing SIL1 mutations might induce defective neuronal morphology and migration, and axon growth and network formation.
I hypothesized that mutation of Tyr682 might induce a redistribution of endogenous APP into the neurons, leading to a dysfunctional neuronal network.
A vaccine encoding a mutation-containing peptide might induce a T-cell reaction against the wild-type analogue peptide that is expressed by healthy tissues.
Boute et al. consequently proposed that the p.R105W mutation might alternatively induce protein misfolding by sterically interfering with the proper formation of this intramolecular disulfide bond [16].
MNNG induced Al, mutation to 6-thioguanine resistance, and mutation to ouabain resistance, and might induce Al by base substitution or frameshift mutations.
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