Article
Characterization and suppression of dysfunctional human alpha1-antitrypsin variants.
Biochemical and biophysical research communications - 28 Apr 2006
Kim Min-Jung, Jung Chan-Hun, Im Hana
Abstract excerpt
Human alpha1-antitrypsin-deficient variants may aggregate in the liver, with subsequent deficiency in the plasma, which can lead to emphysema. The structural and functional characteristics of 10 dysfunctional alpha1-antitrypsin variants (R39C, S53F, V55P, I92N, G115S, N158K, E264V, A336T, P369S, and P369L) were analyzed in detail. Most of them were unstable, as compared to the wild-type molecule, and many of the...
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