Regulator of G Signaling 16 is a marker for the distinct endoplasmic reticulum stress state associated with aggregated mutant alpha1-antitrypsin Z in the classical form of alpha1-antitrypsin deficiency.

Abstract excerpt

In the classical form of alpha(1)-antitrypsin deficiency, a mutant protein accumulates in a polymerized form in the endoplasmic reticulum (ER) of liver cells causing liver damage and carcinogenesis by a gain-of-toxic function mechanism. Recent studies have indicated that the accumulation of mutant alpha(1)-antitrypsin Z in the ER specifically activates the autophagic response but not the unfolded protein response...

Topics

• Animals
• Endoplasmic Reticulum
• HeLa Cells
• Hepatocytes
• Humans
• Liver
• Mice
• Mice, Transgenic
• Models, Biological
• Mutation
• Protein Conformation