Alpha-1-antitrypsin (AAT), an acute-phase protein encoded by the SERPINA1 gene, is a
member of the serine protease inhibitor (SERPIN) superfamily. Its primary function is to …

The liver is the metabolic center of the body and an ideal target for gene therapy of inherited
metabolic disorders (IMDs). Adeno‐associated viral (AAV) vectors can deliver transgenes to …

Background Antineutrophil cytoplasmic autoantibody–associated (ANCA-associated)
vasculitidies (AAV) are life-threatening systemic autoimmune conditions. ANCAs directed …

Abstract Alpha‐1‐antitrypsin (A1AT) is a serine protease inhibitor which blocks the activity of
serum proteases including neutrophil elastase to protect the lungs. Its deficiency is known to …

Serine proteases are essential for many physiological processes and require tight regulation
by serine protease inhibitors (SERPINs). A disturbed SERPIN–protease balance may result …

Abstract Alpha-1 antitrypsin deficiency (A1ATD) is an autosomal recessive disease
characterized by low plasma levels of A1AT, a serine protease inhibitor representing the …

α1-antitrypsin (AAT) deficiency is a common autosomal recessive hereditary disorder, with a
high risk for the development of early-onset panacinar emphysema. AAT, produced primarily …

Alpha 1-antitrypsin is one of the first protein therapeutics introduced on the market more than
30 years ago, and to date, it is indicated only for the treatment of the severe forms of a …

The majority of monogenic liver diseases are autosomal recessive disorders, with few being
sex-related or co-dominant. Although orthotopic liver transplantation (LT) is currently the …

Introduction Alpha-1 antitrypsin deficiency occurs in individuals with deleterious genetic
mutations on both chromosomes (maternal and paternal) in SERPINA1, the gene encoding …