[HTML][HTML] In vivo post-transcriptional gene silencing of α-1 antitrypsin by adeno-associated virus vectors expressing siRNA
PE Cruz, C Mueller, TL Cossette, A Golant, Q Tang… - Laboratory …, 2007 - Elsevier
Abstract α-1 Antitrypsin (AAT) deficiency is one of the most common genetic diseases in
North America, with a carrier frequency of approximately 4% in the US population.
Homozygosity for the most common mutation (Glu342Lys, PI* Z) leads to the synthesis of a
mutant protein, which accumulates and polymerizes within hepatocytes rather than being
efficiently secreted. This lack of secretion causes severe serum deficiency predisposing to
chronic lung disease. Twelve to fifteen percent of patients with PI* ZZ also develop liver …
North America, with a carrier frequency of approximately 4% in the US population.
Homozygosity for the most common mutation (Glu342Lys, PI* Z) leads to the synthesis of a
mutant protein, which accumulates and polymerizes within hepatocytes rather than being
efficiently secreted. This lack of secretion causes severe serum deficiency predisposing to
chronic lung disease. Twelve to fifteen percent of patients with PI* ZZ also develop liver …