Article
An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis.
Science (New York, N.Y.) - 9 Jul 2010
Hidvegi Tunda, Ewing Michael, Hale Pamela, Dippold Christine, Beckett Caroline, Kemp Carolyn, Maurice Nicholas, Mukherjee Amitava, Goldbach Christina, Watkins Simon, Michalopoulos George, Perlmutter David H
Abstract excerpt
In the classical form of alpha1-antitrypsin (AT) deficiency, a point mutation in AT alters the folding of a liver-derived secretory glycoprotein and renders it aggregation-prone. In addition to decreased serum concentrations of AT, the disorder is characterized by accumulation of the mutant alpha1-antitrypsin Z (ATZ) variant inside cells, causing hepatic fibrosis and/or carcinogenesis by a gain-of-toxic function...
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