Sentence examples for mutant at physiological from inspiring English sources

In this work, we have developed a high-sensitive and high-throughput activity assay based on isothermal titration calorimetry (ITC) in order to study the kinetic properties of wild-type PAH (wt-PAH) and the BH4-responsive c.204A > T (p.R68S) mutant at physiological and superphysiological concentrations of l-Phe and BH4.

To examine the Adr1-S98A mutatt at physiological levels, the S98A mutant allele was transferred to a CEN plasmid and expressed under the control of its own promoter.

Our T70I mutant zebrafish model replicates several of the features of human ALS, expresses the mutant protein at physiological levels and has properties that facilitate high-throughput drug screening.

The VCPR155H/+ allele in the knock-in mouse model that we have created expresses the mutant allele at physiological levels as seen in the patients and thus overcomes the problems of over expression.

We report that mice which express FTD-causative mutant CHMP2B at physiological levels develop a novel lysosomal storage pathology characterised by large neuronal autofluorescent aggregates.

This scenario poses a crucial prediction, that is, tethering of Dis1 to the Ndc80 complex would rescue the ndc80-21 mutatthet the physiological level of Dis1 without the need for overexpression.

Here, we took advantage of human iPSCs and their ventral spinal neural derivatives to study the response to stress of different endogenous FUS mutants expressed at physiological levels.

To obtain the dipolar broadening effect or inter-spin distances, spectra for the S90R1 and S117R1 singly-labeled mutants and the S90R1-S117R1 doubly-labeled mutant were acquired at physiological temperature with increasing concentrations of glycerol (Fig. 2A D).