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Article

Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes.

Clinical chemistry and laboratory medicine - 25 Sept 2024

Balderacchi Alice M, Bignotti Mattia, Ottaviani Stefania, Denardo Andrea, Barzon Valentina, Ben Khlifa Emna, Vailati Guido, Piloni Davide, Benini Federica, Corda Luciano, Corsico Angelo G, Ferrarotti Ilaria, Fra Annamaria

Abstract excerpt

OBJECTIVES: Alpha-1-antitrypsin deficiency is a genetic disorder caused by mutations in the SERPINA1 gene encoding alpha-1-antitrypsin (AAT), the major serine protease inhibitor in plasma. Reduced AAT levels are associated with elevated risk of developing emphysema mainly due to uncontrolled activity of neutrophil elastase in the lungs. The prevalent Z-AAT mutant and many rare pathogenic AAT variants also...

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Identifiers

PMID: 38407261
DOI: 10.1515/cclm-2023-1348

Genes

CP
SERPINA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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