Article
Evaluation of cytosine base editing and adenine base editing as a potential treatment for alpha-1 antitrypsin deficiency.
Molecular therapy : the journal of the American Society of Gene Therapy - 6 Apr 2022
Packer Michael S, Chowdhary Vivek, Lung Genesis, Cheng Lo-I, Aratyn-Schaus Yvonne, Leboeuf Dominique, Smith Sarah, Shah Aalok, Chen Delai, Zieger Marina, Cafferty Brian J, Yan Bo, Ciaramella Giuseppe, Gregoire Francine M, Mueller Christian
Abstract excerpt
Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal codominant disease caused by mutations within the SERPINA1 gene. The most prevalent variant in patients is PiZ SERPINA1, containing a single G > A transition mutation. PiZ alpha-1 antitrypsin (AAT) is prone to misfolding, leading to the accumulation of toxic aggregates within hepatocytes. In addition, the abnormally low level of AAT secreted into...
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