In addition, dCREG-Nmut-V5His displayed a prominent 19-kDa band which was barely detectable in wild-type dCREG-V5His treated with PNGase F. Like the 25-kDa full-length protein, this 19-kDa polypeptide reacted with anti-V5 antibodies, whereas the wild-type and mutant 17-kDa forms failed to do so (data not shown).
Overexpression of human FGF23 in osteoblastic lineage or FGF23R176Q (a mutant form that fails to be degraded by furin proteases) in liver results in phenotypic changes similar to those of patients with ADHR or transgenic mice expressing FGF23 ubiquitously.
In turn, Mishra et al. hypothesized that phosphorylated or mutant forms of Huntingtin failed to form α-helical oligomers, critically required as seed structures for aggregation to occur.
On the other hand, both EGFP-tagged mutant forms of Pex11pβ failed to cluster on the reconstituted proteo-liposomes (Fig. 4B).
Mutant forms of this protein fail to complete proper folding and are retained in the ER.
Normal p53 protein can block cells in the late G1 phase of the cycle, just prior to DNA synthesis, while mutant forms of this protein fail to arrest cell cycle progression and can promote cellular proliferation.
In fact, it has been shown that myoblast expressing a mutant form of ARF1 fail to undergo differentiation and fusion [ 16].
L10P, M26I and P158Δ mutant forms of DJ-1 failed to significantly impair aSyn oligomerization, suggesting that these DJ-1 mutations lead to a loss of DJ-1 chaperone function.
Expression of ST inhibited p107 dephosphorylation in FGF treated cells almost completely, while the mutant form of ST failed to prevent it (Fig. 3C).
Based on our result that Gli3 (1 699), the PHS mutant form of Gli3, fails to be localized to the tips of cilia, we speculate that polydactyly in PHS patients and mutant mice may result from insufficient activation of the Gli3 repressor activity in some context.
