Article

Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population

2018-10-24

Abstract excerpt

Lung disease in alpha-1-antitrypsin deficiency (AATD) results from dysregulated proteolytic activity, mainly by neutrophil elastase (HNE), in the lung parenchyma. This is the result of a substantial reduction of circulating alpha-1-antitrypsin (AAT) and the presence in the plasma of inactive polymers of AAT. Moreover, some AAT mutants have reduced intrinsic activity toward HNE, as demonstrated for the common Z mut...

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Literature Corpus work: b20698aa-804a-56ed-9104-cd1f48adf9c9
DOI: 10.1101/452375

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