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Published on: May 24, 2024
Mechanisms of serpin dysfunction in disease
Dion Kaiserman1, James C Whisstock, Phillip I Bird
1Department of Biochemistry and Molecular Biology, Monash University, Clayton, VIC 3800, Australia. dion.kaiserman@med.monash.edu.au
Abstract:
The serpin superfamily encompasses hundreds of proteins, spread across all kingdoms of life, linked by a common tertiary fold. This review focuses on five diseases caused by serpin dysfunction: variants of antithrombin III lose their ability to interact with heparin; the alpha1-antitrypsin Pittsburgh mutation causes a change in target proteinase; the alpha1-antitrypsin Z mutation and neuroserpin, polymerisation of which lead to cellular cytotoxicity; and a loss of maspin expression resulting in cancer.
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