Defining the mechanism of polymerization in the serpinopathies.

Journal article

The serpinopathies result from the ordered polymerization of mutants of members of the serine proteinase inhibitor (serpin) superfamily. These polymers are retained within the cell of synthesis where they cause a toxic gain of function. The serpinopathies are exemplified by inclusions that form with the common severe Z mutant of α(1)-antitrypsin that are associated with liver cirrhosis. There is considerable controversy as to the pathway of serpin polymerization and the structure of pathogeni...

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Authors: Ekeowa, U; Freeke, J; Miranda, E; Gooptu, B; Bush, M

• Publication status: Published
• Journal: Proceedings of the National Academy of Sciences of the United States of America
• Volume: 107
• Issue: 40
• Pages: 17146-17151
• Publication date: 2010-10-01
• DOI: 10.1073/pnas.1004785107
• EISSN: 1091-6490
• ISSN: 0027-8424
• Language: English
• Keywords: Serpins; Amino Acid Sequence; Molecular Sequence Data; Models, Molecular; Protein Conformation; Protein Multimerization; Humans; alpha 1-Antitrypsin; Polymers; Mass Spectrometry; Mutation; Peptides