Article
In vivo post-transcriptional gene silencing of alpha-1 antitrypsin by adeno-associated virus vectors expressing siRNA.
Laboratory investigation; a journal of technical methods and pathology - 1 Sept 2007
Cruz Pedro E, Mueller Christian, Cossette Travis L, Golant Alexandra, Tang Qiushi, Beattie Stuart G, Brantly Mark, Campbell-Thompson Martha, Blomenkamp Keith S, Teckman Jeffrey H, Flotte Terence R
Abstract excerpt
alpha-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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.