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Cell-free expression of site-directed mutants of human hemoglobin.
Aggregation of Trp > Glu point mutants of human gamma-D crystallin provides a model for hereditary or UV-induced cataract.
Two orthogonal destabilizing domains have been developed based on mutants of human FKBP12 as well as bacterial DHFR and these engineered domains have been used to control protein concentration in a variety of contexts in vitro and in vivo.
The molecular basis of the substrate and inhibitor specificity of factor Xa, the serine proteinase of the prothrombinase complex, was investigated by constructing two mutants of human antithrombin (HAT) in which the reactive site loop of the serpin from the P4 P4′ site was replaced with the corresponding residues of the two factor Xa cleavage sites in prothrombin (HAT/Proth-1 and HAT/Proth-2).
To this end, we have constructed mutants of human tyrosinase in which its seven N-glycosylation sites were deleted.
In another study, it was found that R580L and R580K mutants of human TG2 cause increased cell death in response to serum deprivation [24].
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A natural mutant of human lysozyme, D67H, causes hereditary systemic nonneuropathic amyloidosis, which can be fatal.
Martin, E., Sharina, I., Kots, A. & Murad, F. A constitutively activated mutant of human soluble guanylyl cyclase (sGC): Implication for the mechanism of sGC activation.
We injected brain-derived FTLD-TDP-GRN extracts, with proven seeding activity in vitro, into the brains of previously characterized Dox-regulatable transgenic (Tg) mice expressing a cytoplasmic NLS mutant of human TDP-43 (hTDP43NLSm) in forebrain neurons (CamKIIa-hTDP43NLSm 25,26. CamKIIa-hTDP43NLSm 25,26
In this study, we have engineered a hemeless mutant of human cystathionine β-synthase by deletion of the N-terminal 69 amino acids.
The tertiary structure of the Leu308Val mutant of human 20α-hydroxysteroid dehydrogenase (AKR1C1) in complex with the inhibitor 3,5-dichlorosalicylic acid (DCL) has been determined.
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