Isolation of alpha-1-antitrypsin mutant Z protein polymers from liver and their role in cellular injury

Quantitative isolation of α1AT mutant Z

Quantitative isolation of α1AT mutant Z protein polymers from human and mouse livers and the effect of heat

✍ Jae-Koo An; Keith Blomenkamp; Douglas Lindblad; Jeffrey H. Teckman 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 443 KB

Alpha-1-antitrypsin (alpha1AT) deficiency in its most common form is caused by homozygosity for the alpha1AT mutant Z gene. This gene encodes a mutant Z secretory protein, primarily synthesized in the liver, that assumes an abnormal conformation and accumulates within hepatocytes causing liver cell