Therapeutic Genome Editing With CRISPR/Cas9 in a Humanized Mouse Model Ameliorates α1-antitrypsin Deficiency Phenotype.

Abstract excerpt

α1-antitrypsin (AAT) is a circulating serine protease inhibitor secreted from the liver and important in preventing proteolytic neutrophil elastase associated tissue damage, primarily in lungs. In humans, AAT is encoded by the SERPINA1 (hSERPINA1) gene in which a point mutation (commonly referred to as PiZ) causes aggregation of the miss-folded protein in hepatocytes resulting in subsequent liver damage. In an...

Topics

• Adenoviridae
• Animals
• CRISPR-Cas Systems
• Cell Proliferation
• Disease Models, Animal
• Gene Editing
• Gene Expression
• Genetic Vectors
• Humans
• Mice
• Mice, Transgenic
• Phenotype
• Transduction, Genetic