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α‎1-Antitrypsin deficiency and the serpinopathies 

α‎1-Antitrypsin deficiency and the serpinopathies

Chapter:
α‎1-Antitrypsin deficiency and the serpinopathies
Author(s):

David A. Lomas

DOI:
10.1093/med/9780199204854.003.1213_update_001

July 30, 2015: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

Update:

New and emerging treatments—discussion of use of carbamazepine, genomically corrected fibroblasts, and strategies to ‘knock down’ the expression of mutant Z α‎1-antitrypsin within hepatocytes.

Updated on 28 Nov 2012. The previous version of this content can be found here.
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date: 23 August 2017

α1-Antitrypsin is an acute phase glycoprotein synthesized by the liver that functions as an inhibitor of a range of proteolytic enzymes, most importantly neutrophil elastase. Severe plasma deficiency of α1-antitrypsin results from homozygocity for the Z allele, which causes the protein to undergo a conformational transition and form ordered polymers that are retained within hepatocytes as PAS-positive inclusions....

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