ArticleNature communications2022
Correction of a Factor VIII genomic inversion with designer-recombinases.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 29 citations in OpenAlex.
- Programmable enzymes for targeted gene insertion.Nature reviews. Genetics · 2026Review
- Retargeted serine integrases for one-step, precise integration of large DNA sequences in human cells.Nature biotechnology · 2026Article
- Thermodynamics of Indirect Readout in Cre-bioRxiv : the preprint server for biology · 2026Article
- Efficient and precise inversion of genomic DNA from large to chromosomal scale.Nature chemical biology · 2026Article
- Site-specific DNA insertion into the human genome with engineered recombinases.Nature biotechnology · 2025Article
- Protein and DNA Conformational Changes Contribute to Specificity of Cre Recombinase.Biochemistry · 2025Article
- Protein and DNA Conformational Changes Contribute to Specificity of Cre Recombinase.bioRxiv : the preprint server for biology · 2024Article
- A conditional, zinc-finger-dependent recombinase system for DNA editing.Nature biotechnology · 2024Article
- Activation of recombinases at specific DNA loci by zinc-finger domain insertions.Nature biotechnology · 2024Article
- Dynamics in Cre-loxP site-specific recombination.Current opinion in structural biology · 2024Review
- Engineering spacer specificity of the Cre/loxP system.Nucleic acids research · 2024Article
- Orthogonal LoxPsym sites allow multiplexed site-specific recombination in prokaryotic and eukaryotic hosts.Nature communications · 2024Article
- Recent Advances in Double-Strand Break-Free Kilobase-Scale Genome Editing Technologies.Biochemistry · 2023Review
- Quantification of evolved DNA-editing enzymes at scale with DEQSeq.Genome biology · 2023Article
- Precise excision of HTLV-1 provirus with a designer-recombinase.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Discovery and characterization of novel Cre-type tyrosine site-specific recombinases for advanced genome engineering.Nucleic acids research · 2023Article
- Prediction of designer-recombinases for DNA editing with generative deep learning.Nature communications · 2022Article
- Gene editing and its applications in biomedicine.Science China. Life sciences · 2022Review
- Pairing of single mutations yields obligate Cre-type site-specific recombinases.Nucleic acids research · 2022Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite advances in nuclease-based genome editing technologies, correcting human disease-causing genomic inversions remains a challenge. Here, we describe the potential use of a recombinase-based system to correct the 140 kb inversion of the F8 gene frequently found in patients diagnosed with severe Hemophilia A. Employing substrate-linked directed molecular evolution, we develop a coupled heterodimeric recombinase system (RecF8) achieving 30% inversion of the target sequence in human tissue culture cells. Transient RecF8 treatment of endothelial cells, differentiated from patient-derived induced pluripotent stem cells (iPSCs) of a hemophilic donor, results in 12% correction of the inversion and restores Factor VIII mRNA expression. In this work, we present designer-recombinases as an efficient and specific means towards treatment of monogenic diseases caused by large gene inversions.
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