ArticleMolecular therapy : the journal of the American Society of Gene Therapy2022
Evaluation of cytosine base editing and adenine base editing as a potential treatment for alpha-1 antitrypsin deficiency.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 39 citations in OpenAlex.
- Translating base editors: a decade of progress from the bench to the clinic.Nature reviews. Drug discovery · 2026Review
- Advances in Precision Editing Therapies for Alpha-1 Antitrypsin Deficiency.Human gene therapy · 2026Review
- A CS•CBE System Targeting β‑Catenin: Exploring Additional Inhibition Targets for Colon Cancer Proliferation.ACS omega · 2026Article
- Base editing for precision therapeutics.Cell genomics · 2026Review
- sgRNA amount is a limiting factor in adenine base editing using RNA LNPs.Molecular therapy. Nucleic acids · 2026Article
- Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine.Journal of cellular and molecular medicine · 2026Review
- Dual SORT LNPs for multi-organ base editing.Nature biotechnology · 2026Article
- Adenine Base Editing Potently Suppresses Hepatitis B Surface Antigen Expression and Inhibits Hepatitis D Virus Release.bioRxiv : the preprint server for biology · 2026Article
- CRISPR-Cas3-based editing for targeted deletions in a mouse model of transthyretin amyloidosis.Nature biotechnology · 2026Article
- Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components.Small methods · 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
- Current trends in gene therapy to treat inherited disorders of the brain.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- CRISPR-dependent base editing as a therapeutic strategy for rare monogenic disorders.Frontiers in genome editing · 2025Review
- From bench to bedside: cutting-edge applications of base editing and prime editing in precision medicine.Journal of translational medicine · 2024Review
- Gene Therapy for Inherited Liver Disease: To Add or to Edit.International journal of molecular sciences · 2024Review
- Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.Nature communications · 2024Article
- Applications of CRISPR/Cas as a Toolbox for Hepatitis B Virus Detection and Therapeutics.Viruses · 2024Review
- Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
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 circulation provides insufficient inhibition of neutrophil elastase within the lungs, eventually causing emphysema. Cytosine and adenine base editors enable the programmable conversion of C⋅G to T⋅A and A⋅T to G⋅C base pairs, respectively. In this study, two different base editing approaches were developed: use of a cytosine base editor to install a compensatory mutation (p.Met374Ile) and use of an adenine base editor to mediate the correction of the pathogenic PiZ mutation. After treatment with lipid nanoparticles formulated with base editing reagents, PiZ-transgenic mice exhibited durable editing of SERPINA1 in the liver, increased serum AAT, and improved liver histology. These results indicate that base editing has the potential to address both lung and liver disease in AATD.
Indexed as
Identifiers
What OpenQuestion holds
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.