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

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

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 polymer...

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Bibliographic Details
Main Authors: Mattia Laffranchi, Emma L K Elliston, Fabrizio Gangemi, Romina Berardelli, David A Lomas, James A Irving, Annamaria Fra
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0206955

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https://doi.org/10.1371/journal.pone.0206955

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