Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina
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Adeno-associated viral vectors reconstitute large proteins in the retina via intein-mediated protein trans-splicing.
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Upon subretinal AAV administration, split inteins catalyze the seamless joining of the two halves of the ABCA4 protein, reconstituting a functional full-length ABCA4 protein in photoreceptors.
“Upon subretinal AAV administration, split inteins catalyze the seamless joining of the two halves of the ABCA4 protein, thus reconstituting a functional full-length ABCA4 protein in photoreceptors, at levels that largely exceed those achieved via AAV genome recombination by alternative dual AAV-based strategies (5), resulting in therapeutic efficacy in Abca4−/− mice (5).”
From Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models (2025) · cites this paper as [5]
The dual AAV intein approach results in therapeutic efficacy in Abca4−/− mice.
“resulting in therapeutic efficacy in Abca4−/− mice (5).”
From Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models (2025) · cites this paper as [5]
The levels of reconstituted ABCA4 largely exceed those achieved via AAV genome recombination by alternative dual AAV-based strategies.
“at levels that largely exceed those achieved via AAV genome recombination by alternative dual AAV-based strategies (5), resulting in therapeutic efficacy in Abca4−/− mice (5).”
From Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models (2025) · cites this paper as [5]
The authors have recently developed a dual AAV gene therapy approach named AAV-ABCA4-intein vectors.
“To overcome this limitation, we have recently developed a dual AAV gene therapy approach, which we named “AAV-ABCA4-intein” vectors (5).”
From Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models (2025) · cites this paper as [5]
These data show a good safety and expression profile of AAV8.ABCA4.intein vectors in the NHP retina.
“Overall, these data show a good safety and expression profile of AAV8.ABCA4.intein vectors in the NHP retina, confirming the promising data from a previous study in mouse models (5).”
From Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models (2025) · cites this paper as [5]
Some studies have revealed amelioration of retinal phenotypes in STGD1 mouse models.
“Although some of these studies have revealed amelioration of retinal phenotypes in STGD1 mouse models [29,64,102], the low transduction efficiencies as well as the aberrant production of truncated proteins from single AAV vectors have been two major limitations [103,104].”
From Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders (2022) · cites this paper as [64]
Protein trans-splicing has been shown to achieve superior reassembly efficiencies compared to other dual AAV vector strategies for inherited retinal disorders.
“Recently, the Auricchio lab explored the potentials of protein trans-splicing for inherited retinal disorders, proving this technology to achieve superior reassembly efficiencies as compared to other dual AAV vector strategies [64].”
From Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders (2022) · cites this paper as [64]
AAV2/8-CEP290 protein trans-splicing vectors have achieved reconstitution of the large CEP290 protein in the mouse retina, showing ameliorated retinal phenotypes.
“Finally, the use of inteins has also been explored at the experimental level: AAV2/8-CEP290 protein trans-splicing vectors have achieved reconstitution of the large CEP290 protein in the mouse retina, showing ameliorated retinal phenotypes [64].”
From Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders (2022) · cites this paper as [64]
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- Authors
- Tornabene, P., Trapani, I., Minopoli, R., Centrulo, M., Lupo, M., de Simone, S., Tiberi, P., Dell’Aquila, F., Marrocco, E., Iodice, C., Iuliano, A., Gesualdo, C., Rossi, S., Giaquinto, L., Albert, S., Hoyng, C. B., Polishchuk, E., Cremers, F. P. M., Surace, E. M., Simonelli, F., De Matteis, M. A., Polishchuk, R., & Auricchio, A.
- Affiliations
- Telethon Institute Of Genetics And Medicine (IT)
- Federico II University Hospital (IT)
- Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.
- University of Campania "Luigi Vanvitelli" (IT)
- Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, Netherlands.
- Radboud University Nijmegen (NL)
- Corresponding author
- Tornabene, Patrizia
- Trapani, Ivana
- Auricchio, Alberto
- ORCID
- Tornabene, Patrizia
- Trapani, Ivana
- Minopoli, Renato
- Lupo, Mariangela
- Tiberi, Paola
- Dell’Aquila, Fabio
- Marrocco, Elena
- Iuliano, Antonella
- Gesualdo, Carlo
- Rossi, Settimio
- Giaquinto, Laura
- Hoyng, Carel B.
- Polishchuk, Elena
- Cremers, Frans P. M.
- Surace, Enrico M.
- Simonelli, Francesca
- De Matteis, Maria A.
- Polishchuk, Roman
- Auricchio, Alberto
- Venue
- Science Translational Medicine
- Published
- 2019-05-15
- Volume
- 11
- Issue
- 492
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC6863751
- OpenAlex
- W2945064781
- Cited by
- 192
- References
- 53
- Citations by year
- 2026: 23 · 2025: 40 · 2024: 26 · 2023: 27 · 2022: 28 · 2021: 23 · 2020: 20 · 2019: 5
- FWCI
- 11.41
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- CINECA IRIS Institutional Research Information System (University of Basilicata) (submittedVersion, public-domain)
- Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Zenodo (CERN European Organization for Nuclear Research) (submittedVersion, cc-by)
- Funders
- Universita degli Studi di Napoli Federico II (STAR Program)
- European Research Council (694323)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Keywords
- split intein, adeno-associated virus vectors, retinal gene therapy, subretinal delivery, inherited retinal disease, inherited blindness, retinal organoids, porcine model
- MeSH terms
- Dependovirus, Animals, Genetic Vectors, Humans, Organoids, Phenotype, Retina, Swine, Gene Transfer Techniques, Trans-Splicing, Photoreceptor Cells, Vertebrate, Inteins, Green Fluorescent Proteins, Mice, Induced Pluripotent Stem Cells
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