Alpha-1-antitrypsin (a1AT) deficiency is a common, but under-diagnosed, genetic disease. The accumulation of mutant protein within hepatocytes causes liver injury, cirrhosis, and hepatocellular carcinoma via a cascade of chronic hepatocellular apoptosis, regeneration, and end organ injury.
Santangelo S, Scarlata S, Poeta ML, Bialas AJ, Paone G, Incalzi RA.
Curr Med Chem. 2017;24(1):65-90.
Advances in alpha-1-antitrypsin deficiency liver disease.
Teckman JH, Jain A.
Curr Gastroenterol Rep. 2014 Jan;16(1):367
