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Additional mutational analysis is required to determine more detailed effects of this mutation on the protein function and the prevalence of the variant allele needs to be further explored in the general Gambian population.
The central end of the present work is the detailed study of the BL phenotype to characterize the effects of this mutation, at organ and cellular levels, on both morphological and physiological traits.
However, inconsistent effects of this mutation have been reported: positive effects of PYK defect in mutants having phosphoenolpyruvate carboxylase (PEPC) desensitized to feedback inhibition by aspartic acid, while negative effects in simple PYK gene (pyk) knockout mutants.
Our results support the notion that in vitro cultures derived from Disc1Tm1Kara mice provide a valuable model for future mechanistic analysis of the cellular and biochemical effects of this mutation, and can thus serve as a platform for drug discovery efforts.
We report the effects of this mutation on aggregation and biofilm formation in a model system.
We further investigated the effects of this mutation on the binding interactions of the mutant enzyme with the substrates.
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Further studies are ongoing to refute or corroborate the potentially dominant effect of this mutation.
In an attempt to dissect the mechanism of escape of the Nef TW9 mutation, we investigated the effect of this mutation on CTL recognition of CD4+T cells infected with an engineered SIVmac239 that contained the TW9 mutation in Nef.
We have examined the effect of this mutation on the structure and function of NCS-1.
However, the effect of this mutation is only intermediary as compared with AgmISG15 (see Figure 5b).
Based on molecular modeling, the effect of this mutation over protein stability is probably independent of p.D322G mutation found on the same allele.
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