Overall, these data demonstrate that the product of the normal SOD1 allele in fALS has potential to influence the toxicity of mutant SOD1 and that complex interactions with the mutant protein may influence the formation of aggregates and inclusion bodies generated by mutant SOD1.
This suggests that differential handling of mutant protein may influence ER-accumulation, ER stress induction and COL4A2 deposition in the BM, and is associated with disease development.
Mutant RyR2 and CASQ2 may influence myocyte Ca2+ homeostasis resulting in inappropriate 'leakiness' of RyR2-Ca2+ release channels, causing increases in their basal activity, alterations in their phosphorylation status or defective interactions of RyR2 with other molecules or ions, including FKBP12.6, CASQ2, or Mg2+, or its abnormal activation by extra- or intraluminal Ca2+.
One might hypothesize that the ChlI2 gene copies may influence the ChlI1 mutant phenotypes, either by masking protein malfunctions or contributing additional inhibitory interactions.
Down-regulated of this protein may influence virulence of the mutant.
Our analyses in E/P-selectin mutant mice suggested that these adhesion molecules may influence the development of CIA by altering the production of MIP-1α and IL-1β.
At 3 h post-infection, the mean percentage of TIGR4-containing phagolysosomes was significantly lower (p < 0.05) than those of all mutant strains, suggesting that PspC and PspA may influence phagosome maturation in microglia.
Tumour cells frequently express mutant forms of DNA damage response proteins that may influence their sensitivity to therapeutic agents like cisplatin.
Thus, mutant huntingtin is expressed in breast tumours where it may influence cancer progression.
Predictions of the mutants' three-dimensional structure suggested that the hydrogen-bond distance between threonine 83 and aspartic acid 92 may influence reaction specificity, which shifted toward hydrolysis in mutants where this distance was shorter than in the wild type, but toward methanolysis where it was longer.
