The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells
Open accessAbstract
Human induced pluripotent stem cells (iPSCs) represent a unique opportunity for regenerative medicine because they offer the prospect of generating unlimited quantities of cells for autologous transplantation, with potential application in treatments for a broad range of disorders. However, the use of human iPSCs in the context of genetically inherited human disease will require the correction of disease-causing mutations in a manner that is fully compatible with clinical applications. The methods currently available, such as homologous recombination, lack the necessary efficiency and also leave residual sequences in the targeted genome. Therefore, the development of new approaches to edit the mammalian genome is a prerequisite to delivering the clinical promise of human iPSCs. Here we show that a combination of zinc finger nucleases (ZFNs) and piggyBac technology in human iPSCs can achieve biallelic correction of a point mutation (Glu342Lys) in the α1-antitrypsin (A1AT, also known as SERPINA1) gene that is responsible for α1-antitrypsin deficiency. Genetic correction of human iPSCs restored the structure and function of A1AT in subsequently derived liver cells in vitro and in vivo. This approach is significantly more efficient than any other gene-targeting technology that is currently available and crucially prevents contamination of the host genome with residual non-human sequences. Our results provide the first proof of principle, to our knowledge, for the potential of combining human iPSCs with genetic correction to generate clinically relevant cells for autologous cell-based therapies.
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Cites
Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells
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Self-citationFUSAKI, N., BAN, H., NISHIYAMA, A., SAEKI, K., & HASEGAWA, M. (2009) · Proceedings of the Japan Academy Series B · doi:10.2183/pjab.85.348 · Cited by 1,411
Self-citationSeki, T., Yuasa, S., Oda, M., Egashira, T., Yae, K., Kusumoto, D., Nakata, H., Tohyama, S., Hashimoto, H., Kodaira, M., et al. (2010) · Cell Stem Cell · doi:10.1016/j.stem.2010.06.003 · Cited by 584
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ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering
Gaj, T., Gersbach, C. A., & Barbas, C. F. (2013) · Trends in Biotechnology · doi:10.1016/j.tibtech.2013.04.004 · Cited by 3,820
TALENs: A widely applicable technology for targeted genome editing
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“…studies have shown that ZFN-induced HDR can be used to correct genetic mutations responsible for sickle cell anemia 72 or alpha1-antitypsin disease 73 or in the Parkinson’s disease-associated alpha-synuclein gene 74 in patient-specific induced pluripotent stem cells that have been reprogrammed…”
Godoy, P., Hewitt, N. J., Albrecht, U., Andersen, M. E., Ansari, N., Bhattacharya, S., Bode, J. G., Bolleyn, J., Borner, C., Böttger, J., et al. (2013) · Archives of Toxicology · doi:10.1007/s00204-013-1078-5 · Cited by 1,280
A guide to genome engineering with programmable nucleases
Kim, H., & Kim, J.-S. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3686 · Cited by 1,163
GDF15 mediates the effects of metformin on body weight and energy balance
Coll, A. P., Chen, M., Taskar, P., Rimmington, D., Patel, S., Tadross, J. A., Cimino, I., Yang, M., Welsh, P., Virtue, S., et al. (2020) · Nature · doi:10.1038/s41586-019-1911-y · Cited by 584
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Metadata
- Authors
- Yusa, K., Rashid, S. T., Strick-Marchand, H., Varela, I., Liu, P.-Q., Paschon, D. E., Miranda, E., Ordóñez, A., Hannan, N. R. F., Rouhani, F. J., Darche, S., Alexander, G., Marciniak, S. J., Fusaki, N., Hasegawa, M., Holmes, M. C., Di Santo, J. P., Lomas, D. A., Bradley, A., & Vallier, L.
- Venue
- Nature
- Published
- 2011-10-12
- Volume
- 478
- Issue
- 7369
- Pages
- 391-394
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W1984582197
- Cited by
- 639
- References
- 6
- FWCI
- 26.92
- Type
- journal article
- Language
- en
- Open access
- green
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- Yusa, K., Rashid, S. T., Strick-Marchand, H., Varela, I., Liu, P.-Q., Paschon, D. E., Miranda, E., Ordóñez, A., Hannan, N. R. F., Rouhani, F. J., Darche, S., Alexander, G., Marciniak, S. J., Fusaki, N., Hasegawa, M., Holmes, M. C., Di Santo, J. P., Lomas, D. A., Bradley, A., & Vallier, L. (2011). Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells. Nature. https://doi.org/10.1038/nature10424
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