Article
Activation of the c-Jun N-terminal kinase pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin.
Hepatology (Baltimore, Md.) - 1 Jun 2017
Pastore Nunzia, Attanasio Sergio, Granese Barbara, Castello Raffaele, Teckman Jeffrey, Wilson Andrew A, Ballabio Andrea, Brunetti-Pierri Nicola
Abstract excerpt
Alpha1-antitrypsin deficiency is a genetic disease that can affect both the lung and the liver. The vast majority of patients harbor a mutation in the serine protease inhibitor 1A (SERPINA1) gene leading to a single amino acid substitution that results in an unfolded protein that is prone to polymerization. Alpha1-antitrypsin defciency-related liver disease is therefore caused by a gain-of-function mechanism due...
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