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This acquired freedom could be affected differently by the various mutations.
Consequently, to elucidate the pathogenesis of TPI deficiency, it is of enormous importance to identify cellular factors that interact with TPI, to investigate whether their association has an effect on the catalytic activity of TPI, and obviously whether the binding is affected by the various mutations.
The ultimate goal is to remedy the deficits caused by the various mutations linked to CSNB2.
CAPS are caused by gain of function mutations [ 40] and are thought to share a common mechanism, whereby the closed and inactive structure of NALP3 is disrupted by the various mutations, leading to activation of the inflammasome complex and IL-1β release [ 41].
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Suppression of TPE was monitored in the strain y1 w118; P[w+] 39C-5, (39C-5) [57] by monitoring the effect of the various mutations on expression of the mini-white gene from the reporter construct inserted into the 2L telomere.
Standard PCR-directed mutagenesis approaches were used to generate the various mutations used in the study and all mutations were verified by automated dideoxy sequencing.
These findings led researchers to assume that the disease was a mitochondrial disorder, which was subsequently confirmed by the discovery of various mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase [ 14, 38].
DOI: http://dx.doi.org/10.7554/eLife.06074.012 We probed the significance of the interactions seen in the crystal structures by studying how various mutations affect the rate of autophosphorylation and enzymatic activity.
This had been done by the use of various mutations detection methods to screen for mutations in the LDL receptor gene (NG_009060) and apoB-100 gene (NG_011793), respectively.
The aim of this study was to further characterise and improve the efficiency of the 2A coexpression system by introducing various mutations immediately upstream of shorter versions of F2A and T2A linking GFP and CherryFP proteins.
Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disorder caused by various mutations in the gene encoding the key glycolytic enzyme TPI.
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