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New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.
Stefan J Marciniak, Adriana Ordóñez, Jennifer A Dickens, Joseph E Chambers, Vruti Patel, Caia S Dominicus, Elke Malzer
Jun 04, 2019
Alpha-1 antitrypsin deficiency is predominantly caused by point mutations that alter the protein's folding. These mutations fall into two broad categories: those that destabilize the protein dramatically and lead to its...
endoplasmic reticulum overload endoplasmic reticulum overload response Endoplasmic reticulum stress serpin Unfolded Protein Response Endoplasmic Reticulum Endoplasmic reticulum stress Humans Mutation NF-kappa B Signal Transduction Unfolded Protein Response alpha 1-Antitrypsin alpha 1-Antitrypsin Deficiency