Article
A compact base editor rescues AATD-associated liver and lung disease in mouse models.
Molecular therapy : the journal of the American Society of Gene Therapy - 5 Nov 2025
Gao Jenny, Bamidele Nathan, Pires-Ferreira Debora, Zheng Chunwei, Destefano April, Cheng Haoyang, Tang Qiushi, Cao Yueying, Xie Jun, Gao Guangping, Gruntman Alisha, Sontheimer Erik, Flotte Terence R, Xue Wen
Abstract excerpt
Alpha-1 antitrypsin deficiency (AATD) is commonly caused by a G-to-A mutation in the SERPINA1 gene (the PiZ mutation). The mutant PiZ AAT protein is sequestered in hepatocytes, causing lung emphysema due to insufficient AAT protein to inhibit neutrophil elastase in the lung. Here, we show that a compact adenine base editor (ABE) with an evolved Cas9 nickase derived from Neisseria meningitidis (eNme2.C) can be...
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