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Article

Probing of the reactive center loop region of alpha-1-antitrypsin by mutagenesis predicts new type-2 dysfunctional variants.

Cellular and molecular life sciences : CMLS - 13 Dec 2023

Denardo Andrea, Ben Khlifa Emna, Bignotti Mattia, Giuliani Roberta, D'Acunto Emanuela, Miranda Elena, Irving James A, Fra Annamaria

Abstract excerpt

Lung disease in alpha-1-antitrypsin deficiency (AATD) mainly results from insufficient control of the serine proteases neutrophil elastase (NE) and proteinase-3 due to reduced plasma levels of alpha-1-antitrypsin (AAT) variants. Mutations in the specificity-determining reactive center loop (RCL) of AAT would be predicted to minimally affect protein folding and secretion by hepatocytes but can impair anti-protease...

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Identifiers

PMID: 38087060
DOI: 10.1007/s00018-023-05059-1
PMCID: PMC11073084

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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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