Article

Effect of Alpha-1 Antitrypsin Deficiency on Zinc Homeostasis Genes Regulation and Interaction with Endoplasmic Reticulum Stress Response Associated Genes

2025-05-06

Abstract excerpt

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder caused by mutations in the SERPINA1 gene, leading to reduced levels or impaired function of alpha-1 antitrypsin (AAT). This condition predominantly affects the lungs and liver. The Z allele, a specific mutation in the SERPINA1 gene, is the most severe form and results in the production of misfolded AAT proteins. The misfolded peptides accumulate in the en...

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Literature Corpus work: d97e1653-3f22-57b5-9d8b-549f20d765ed
DOI: 10.20944/preprints202505.0271.v1

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