Article
New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.
Annals of the American Thoracic Society - 1 Aug 2016
Marciniak Stefan J, Ordóñez Adriana, Dickens Jennifer A, Chambers Joseph E, Patel Vruti, Dominicus Caia S, Malzer Elke
Abstract excerpt
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 post-translational degradation and those that affect protein structure more subtly to promote protein polymerization within the endoplasmic reticulum (ER). This distinction is important because it...
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