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Article

The pathological Trento variant of alpha-1-antitrypsin (E75V) shows nonclassical behaviour during polymerization.

The FEBS journal - 1 Jul 2017

Miranda Elena, Ferrarotti Ilaria, Berardelli Romina, Laffranchi Mattia, Cerea Marta, Gangemi Fabrizio, Haq Imran, Ottaviani Stefania, Lomas David A, Irving James A, Fra Annamaria

Abstract excerpt

Severe alpha-1-antitrypsin deficiency (AATD) is most frequently associated with the alpha-1-antitrypsin (AAT) Z variant (E342K). ZZ homozygotes exhibit accumulation of AAT as polymers in the endoplasmic reticulum of hepatocytes. This protein deposition can lead to liver disease, with the resulting low circulating levels of AAT predisposing to early-onset emphysema due to dysregulation of elastinolytic activity in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 28504839
DOI: 10.1111/febs.14111
PMCID: PMC5518210

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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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