Effect of Alpha 1-AT Phenotype Abnormalities on the Severity of Airway Obstruction in Asthma and Other Airway Conditions If a functional deficit in alpha 1-AT occurs in asthma, is this simply a ...

Alpha-1 antitrypsin deficiency (AATD ... We used immunohistochemistry to assess the AATD liver phenotype, and RNA sequencing to explore liver transcriptomics. We observed a distinct transcriptomic ...

The recent conference, `Alpha 1-antitrypsin deficiency and other conformational ... Michigan) described the phenotype of a mouse `knock-in' of a mutant allele of eIF2α that cannot be ...

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by the misfolding and accumulation of the mutant variant of alpha-1 antitrypsin (AAT) within hepatocytes, which limits its ...

People with Pi*ZZ AATD do not naturally produce wild-type alpha-1 antitrypsin (M-AAT) protein. Thus, detecting the M-AAT protein confirms that mutant Z-AAT mRNA has been successfully edited.