There are a number of respiratory diseases characterized by the presence of excess
neutrophil elastase (NE) activity in tissues, including cystic fibrosis and chronic obstructive …

Alpha-1 antitrypsin deficiency (AATD) is caused by a single mutation in the SERPINA1 gene,
which culminates in the accumulation of misfolded alpha-1 antitrypsin (ZAAT) within the …

Alpha‐1 antitrypsin (AAT) deficiency (AATD) is an inherited disease caused by mutations in
the serpin family A member 1 (SERPINA1, also known as AAT) gene. The most common …

Background Alpha-1 antitrypsin deficiency (AATD)-mediated liver disease is a toxic “gain-of-function”
inflammation in the liver associated with intracellular retention of mutant alpha-1 …

Background Severe acute respiratory syndrome caused by a novel coronavirus 2 (SARS-CoV-2)
has infected more than 18 million people worldwide. The activation of endothelial cells …

Background Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder most commonly
secondary to a single mutation in the SERPINA1 gene (PI*Z) that causes misfolding and …

The SERPINA1 gene encodes the serine protease inhibitor alpha-1 antitrypsin (AAT) and is
located on chromosome 14q31-32.3 in a cluster of homologous genes likely formed by exon …

Alpha 1 antitrypsin deficiency (AATD) is an autosomal co-dominant disorder characterized
by a low level of circulating AAT, which significantly reduces protection for the lower airways …

Alpha-1 antitrypsin deficiency (AATD) is a genetic disease caused by a hepatic accumulation
of mutant alpha-1 antitrypsin (ZAAT). Individuals with AATD are prone to develop a chronic …

α 1 -Antitrypsin deficiency (AATD) is an inherited disease characterized by emphysema and
liver disease. AATD is most often caused by a single amino acid substitution at position 342 …