ArticleHuman gene therapy2018
In Vivo Genome Editing Partially Restores Alpha1-Antitrypsin in a Murine Model of AAT Deficiency.
Article in Human gene therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
42 citing papers in PubMed, 70 citations in OpenAlex.
- Advances in Precision Editing Therapies for Alpha-1 Antitrypsin Deficiency.Human gene therapy · 2026Review
- Application of CRISPR-Cas9-Based Gene Editing Technology in Inherited Liver Diseases.International journal of molecular sciences · 2026Review
- CRISPR and the Promise of Gene Editing: Unlocking Curative Possibilities for Liver Disorders Worldwide.ACG case reports journal · 2026Article
- Physical stimuli-responsive CRISPR-Cas9 systems for spatiotemporally precise control of genome engineering.Theranostics · 2026Review
- Review
- 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 · 2025Article
- Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group.Molecular therapy. Nucleic acids · 2025Review
- Gene Therapy for Inherited Liver Disease: To Add or to Edit.International journal of molecular sciences · 2024Review
- Article
- Ex vivo gene editing and cell therapy for hereditary tyrosinemia type 1.Hepatology communications · 2024Article
- Recent Therapeutic Gene Editing Applications to Genetic Disorders.Current issues in molecular biology · 2024Review
- Approaches to Therapeutic Gene Editing in Alpha-1 Antitrypsin Deficiency.Methods in molecular biology (Clifton, N.J.) · 2024Article
- What did CRISPR-Cas9 accomplish in its first 10 years?Biochemia medica · 2023Article
- Mini-organs with big impact: Organoids in liver cancer studies.Oncology research · 2023Review
- Advances in CRISPR/Cas gene therapy for inborn errors of immunity.Frontiers in immunology · 2023Review
- In vivo delivery of CRISPR-Cas9 genome editing components for therapeutic applications.Biomaterials · 2022Review
- Efficient in vivo base editing via single adeno-associated viruses with size-optimized genomes encoding compact adenine base editors.Nature biomedical engineering · 2022Article
- In vivo adenine base editing reverts C282Y and improves iron metabolism in hemochromatosis mice.Nature communications · 2022Article
- mRNA and gene editing: Late breaking therapies in liver diseases.Hepatology (Baltimore, Md.) · 2022Review
- Review
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
CRISPR (clustered regularly interspaced short palindromic repeats) genome editing holds promise in the treatment of genetic diseases that currently lack effective long-term therapies. Patients with alpha-1 antitrypsin (AAT) deficiency develop progressive lung disease due to the loss of AAT's antiprotease function and liver disease due to a toxic gain of function of the common mutant allele. However, it remains unknown whether CRISPR-mediated AAT correction in the liver, where AAT is primarily expressed, can correct either or both defects. Here we show that AAV delivery of CRISPR can effectively correct Z-AAT mutation in the liver of a transgenic mouse model. Specifically, we co-injected two AAVs: one expressing Cas9 and another encoding an AAT guide RNA and homology-directed repair template. In both neonatal and adult mice, this treatment partially restored M-AAT in the serum. Furthermore, deep sequencing confirmed both indel mutations and precise gene correction in the liver, permitting careful analysis of gene editing events in vivo. This study demonstrates a proof of concept for the application of CRISPR-Cas9 technology to correct AAT mutations in vivo and validates continued exploration of this approach for the treatment of patients with AAT deficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.