ArticleMolecular therapy : the journal of the American Society of Gene Therapy2020
Amelioration of an Inherited Metabolic Liver Disease through Creation of a De Novo Start Codon by Cytidine Base Editing.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 35 citations in OpenAlex.
- Application of CRISPR-Cas9-Based Gene Editing Technology in Inherited Liver Diseases.International journal of molecular sciences · 2026Review
- LNP-mediated in vivo base editing corrects Agxt to cure primary hyperoxaluria type 1.Clinical and translational medicine · 2025Article
- Review
- Progress in Gene Therapy for Hereditary Tyrosinemia Type 1.Pharmaceutics · 2025Review
- Amelioration of metabolic and behavioral defects through base editing in the PahMolecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- From bench to bedside: cutting-edge applications of base editing and prime editing in precision medicine.Journal of translational medicine · 2024Review
- Engineering APOBEC3A deaminase for highly accurate and efficient base editing.Nature chemical biology · 2024Article
- Generation of precision preclinical cancer models using regulated in vivo base editing.Nature biotechnology · 2024Article
- Clinical applications of the CRISPR/Cas9 genome-editing system: Delivery options and challenges in precision medicine.Genes & diseases · 2024Review
- Advances in CRISPR-Cas technology and its applications: revolutionising precision medicine.Frontiers in genome editing · 2024Review
- Gene editing innovations and their applications in cardiomyopathy research.Disease models & mechanisms · 2023Review
- Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing.Molecular therapy. Nucleic acids · 2023Article
- CRISPR-Based Tools for Fighting Rare Diseases.Life (Basel, Switzerland) · 2022Review
- Gene editing and its applications in biomedicine.Science China. Life sciences · 2022Review
- Basic Principles and Clinical Applications of CRISPR-Based Genome Editing.Yonsei medical journal · 2022Review
- Next-Generation CRISPR Technologies and Their Applications in Gene and Cell Therapy.Trends in biotechnology · 2021Review
- Genetically blockingMolecular therapy. Methods & clinical development · 2021Article
- Evolving AAV-delivered therapeutics towards ultimate cures.Journal of molecular medicine (Berlin, Germany) · 2021Review
- CRISPR base editing applications for identifying cancer-driving mutations.Biochemical Society transactions · 2021Review
- Precision genome editing using cytosine and adenine base editors in mammalian cells.Nature protocols · 2021Article
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Base editing technology efficiently generates nucleotide conversions without inducing excessive double-strand breaks (DSBs), which makes it a promising approach for genetic disease therapy. In this study, we generated a novel hereditary tyrosinemia type 1 (HT1) mouse model, which contains a start codon mutation in the fumarylacetoacetate hydrolase (Fah) gene by using an adenine base editor (ABE7.10). To investigate the feasibility of base editing for recombinant adeno-associated virus (rAAV)-mediated gene therapy, an intein-split cytosine base editor (BE4max) was developed. BE4max efficiently induced C-to-T conversion and restored the start codon to ameliorate HT1 in mice, but an undesired bystander mutation abolished the effect of on-target editing. To solve this problem, an upstream sequence was targeted to generate a de novo in-frame start codon to initiate the translation of FAH. After treatment, almost all C-to-T conversions created a start codon and restored Fah expression, which efficiently ameliorated the disease without inducing off-target mutations. Our study demonstrated that base editing-mediated creation of de novo functional elements would be an applicable new strategy for genetic disease therapy.
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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.