The unfolded protein response to PIZ alpha‐1 antitrypsin in human hepatocellular and murine models

• Published in: Hepatology communications Vol. 6; no. 9; pp. 2354 - 2367
• Main Authors: Lu, Yuanqing, Wang, Liqun R., Lee, Jungnam, Mohammad, Naweed S., Aranyos, Alek M., Gould, Calvin, Khodayari, Nazli, Oshins, Regina A., Moneypenny, Craig G., Brantly, Mark L.
• Format: Journal Article
• Language: English
• Published: United States Wolters Kluwer Health Medical Research, Lippincott Williams & Wilkins 01.09.2022; John Wiley and Sons Inc; Wolters Kluwer Health/LWW
• Subjects: alpha 1-Antitrypsin Deficiency - genetics; Animals; Apoptosis; Carcinoma, Hepatocellular - genetics; CRISPR; Disease Models, Animal; Endoplasmic reticulum; Gene expression; Genome editing; Humans; Kinases; Liver; Liver Neoplasms; Membranes; Mice; Mice, Transgenic; Mutation; Neutrophils; Original; Proteins; Rodents; Transgenic animals; Unfolded Protein Response - genetics; United States > US

Alpha‐1 antitrypsin (AAT) deficiency (AATD) is an inherited disease caused by mutations in the serpin family A member 1 (SERPINA1, also known as AAT) gene. The most common variant, PI*Z (Glu342Lys), causes accumulation of aberrantly folded AAT in the endoplasmic reticulum (ER) of hepatocytes that is...