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Article

The discovery of α1-antitrypsin and its role in health and disease.

Respiratory medicine - 1 Aug 2011

Janciauskiene Sabina M, Bals Robert, Koczulla Rembert, Vogelmeier Claus, Köhnlein Thomas, Welte Tobias

Abstract excerpt

α1-Antitrypsin (AAT) is the archetype member of the serine protease inhibitor (SERPIN) supergene family. The AAT deficiency is most often associated with the Z mutation, which results in abnormal Z AAT folding in the endoplasmic reticulum of hepatocytes during biogenesis. This causes intra-cellular retention of the AAT protein rather than efficient secretion with consequent deficiency of circulating AAT. The...

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Identifiers

PMID: 21367592
DOI: 10.1016/j.rmed.2011.02.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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