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In this work protein variants characterized by mutations in functional domains of SBE enzyme have been identified and analyzed by bioinformatic tools able to predict the effect of the amino acid substitution on protein structure and functionality.
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However, we have engineered a fatty acid synthase containing one wild-type subunit and one subunit compromised by mutations in all seven functional domains that is active in fatty acid synthesis.
Biologically complex diseases such as cancer are caused by mutations in biological pathways or functional groups instead of individual genes.
As most mutations in functional regions are likely to impair function, they will tend to be eliminated by natural selection.
In addition, mutations in functional processed pseudogenes can cause disease.
It is caused by mutations in the dystrophin gene, leading to functional loss or absence of the protein at the sarcolemma of muscle fibers (Deconinck and Dan, 2007).
Overexpression of RTK proteins or functional alterations caused by mutations in the corresponding genes or abnormal stimulation by autocrine growth factor loops contribute to constitutive RTK signaling, resulting in dysregulated cell growth and cancer.
To assess the functional alterations caused by mutations in the SLC52A2 gene, H-riboflavin transport activity was assessed using an in vitro transient expression system (Fig. 5A).
BMD is a milder and rarer form of muscular dystrophy (∼1/20,000) [13] caused by mutations in dystrophin that enable the production of partially functional truncated protein products [14], [15].
The ability of sulphonylureas to treat patients with ND caused by mutations in KATP channels depends on the severity of functional defect caused by these mutations.
Thus, MED12 mutations are likely to lead to specific functional effects not concurrently replicated by mutations in other components of the Mediator kinase module.
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