New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.

doi:10.1513/AnnalsATS.201506-358KV

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Article

New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.

Annals of the American Thoracic Society - 1 Aug 2016

Marciniak Stefan J, Ordóñez Adriana, Dickens Jennifer A, Chambers Joseph E, Patel Vruti, Dominicus Caia S, Malzer Elke

Abstract excerpt

Alpha-1 antitrypsin deficiency is predominantly caused by point mutations that alter the protein's folding. These mutations fall into two broad categories: those that destabilize the protein dramatically and lead to its post-translational degradation and those that affect protein structure more subtly to promote protein polymerization within the endoplasmic reticulum (ER). This distinction is important because it...

Topics

Endoplasmic Reticulum
Endoplasmic Reticulum Stress
Humans
Mutation
NF-kappa B
Signal Transduction
Unfolded Protein Response
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

Source

Open in PubMed

Identifiers

PMID: 27564663
DOI: 10.1513/AnnalsATS.201506-358KV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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