Background and aims 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 ...
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.
The recent conference, `Alpha 1-antitrypsin deficiency and other conformational diseases', held in Airlie, Virginia, USA (27–30 June, 2000) focused on some of the common pathways by which cells ...
which is being evaluated in a phase 1/2 study for the treatment of patients with Alpha-1 Antitrypsin deficiency [AATD]. Initial results from this early-stage study are expected to be released in 2025.