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Article

Amelioration of Alpha-1 Antitrypsin Deficiency Diseases with Genome Editing in Transgenic Mice.

Human gene therapy - 1 Aug 2018

Shen Shen, Sanchez Minerva E, Blomenkamp Keith, Corcoran Erik M, Marco Eugenio, Yudkoff Clifford J, Jiang Haiyan, Teckman Jeffrey H, Bumcrot David, Albright Charles F

Abstract excerpt

Alpha-1 antitrypsin deficiency (AATD) is a hereditary liver disease caused by mutations in the SERPINA1 serine protease inhibitor gene. Most severe patients are homozygous for PiZ alleles (PiZZ; amino acid E324K), which lead to protein aggregates in hepatocytes and reduced circulating levels of AAT. The liver aggregates typically lead to fibrosis, cirrhosis, and hepatocellular carcinoma, and the reduced...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29641323
DOI: 10.1089/hum.2017.227

Genes

SERPINA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Amelioration of Alpha-1 Antitrypsin Deficiency Diseases with Genome Editing in Transgenic Mice.PMID 29641323Read ↗

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