Ub of FOXO3 was abrogated by a point mutation at Ser-644 FOXO3-S644A-myc FOXO3-S644A-myc FOXO3-S644A-mycmutated to Ala and resistant to IKKβ phosphorylation), suggesting that Ub of FOXO3 requires phosphorylation of FOXO3 at Ser-644 by IKKβ.
Shinkura, R. et al. Alymphoplasia is caused by a point mutation in the mouse gene encoding NF-κB-inducing kinase.
Bargmann, C.I., Hung, M.C. & Weinberg, R.A. Multiple independent activations of the neu oncogene by a point mutation altering the transmembrane domain of p185.
Purdue, P. E., Allsop, J., Isaya, G., Rosenberg, L. E. & Danpure, C. J. Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.
This immunological disorder is caused by a point mutation within the 12.4 kilobase (kb) gene encoding the DNA protein kinase catalytic subunit (DNA-PKcs) and is associated with aberrant DNA repair, defective T- and B-cell production, and hypersensitivity to radiation-induced injury.
In this study we compared the effect of controlling the maximum activation state of the Azotobacter vinelandii glutamine synthase by a point mutation at the active site (D49S mutation) and impairing the ammonium-dependent homeostatic control of nitrogen-fixation genes expression by the ΔnifL mutation on ammonium release by the cells.
HGPS is caused by a point mutation in lamin A (LMNA) gene, resulting in the production of a truncated protein product progerin.
These results indicate that the sugary endosperm phenotype could be caused by a point mutation on OsISA1, which was shared by both sug-1 and sug-h mutants.
This interaction can inhibit the aggregation and toxicity caused by a point mutation in αB-crystallin, R120G αB-crystallin [4].
Inactivation of UBD of optineurin by a point mutation (D474N) results in loss of inhibition of NF-κB activation [16].
The U87MG-EGFRKD cells express a mutant derivative of U87MG-EGFRvIII where the kinase activity was inactivated by a point mutation in the ATP-binding site [23].
