Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

Genome editing

Mutation corrections in spinal muscular atrophy

Nature Biomedical Engineering volume 8, pages 111–113 (2024)Cite this article

Subjects

Base editors can restore the expression of survival motor neuron protein to therapeutically beneficial levels in animal and cell models of spinal muscular atrophy.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: Base editors for the treatment of SMA.

References

  1. Mailman, M. D. et al. Genet. Med. 4, 20–26 (2002).

    Article  CAS  PubMed  Google Scholar 

  2. Cartegni, L., Hastings, M. L., Calarco, J. A., de Stanchina, E. & Krainer, A. R. Am. J. Hum. Genet. 78, 63–77 (2006).

    Article  CAS  PubMed  Google Scholar 

  3. Finkel, R. S. et al. N. Engl. J. Med. 377, 1723–1732 (2017).

    Article  CAS  PubMed  Google Scholar 

  4. Oskoui, M. et al. J. Neurol. 270, 2531–2546 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Mercuri, E. et al. Lancet Neurol. 20, 832–841 (2021).

    Article  CAS  PubMed  Google Scholar 

  6. Alves, C. R. R. et al. Nat. Biomed. Eng. https://doi.org/10.1038/s41551-023-01132-z (2023).

    Article  PubMed  Google Scholar 

  7. Arbab, M. et al. Science 380, eadg6518 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Koblan, L. W. et al. Nature 589, 608–614 (2021).

    Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

  9. Levy, J. M. et al. Nat. Biomed. Eng. 4, 97–110 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Hua, Y. et al. Nature 478, 123–126 (2011).

    Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

  11. Mathiesen, S. N., Lock, J. L., Schoderboeck, L., Abraham, W. C. & Hughes, S. M. Mol. Ther. Meth. Clin. Dev. 19, 447–458 (2020).

    Article  CAS  Google Scholar 

  12. Gonzalez-Sandoval, A. et al. Nat. Commun. 14, 2448 (2023).

    Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

  13. Porto, E. M., Komor, A. C., Slaymaker, I. M. & Yeo, G. W. Nat. Rev. Drug Discov. 19, 839–859 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Du, M., Jillette, N., Zhu, J. J., Li, S. & Cheng, A. W. Nat. Commun. 11, 2973 (2020).

    Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

  15. Katrekar, D. et al. Nat. Biotech. 40, 938–945 (2022).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Bioengineering, University of California, San Diego, La Jolla, CA, USA

    Andrew Portell & Prashant Mali

Authors
  1. Andrew Portell
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Prashant Mali
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Prashant Mali.

Ethics declarations

Competing interests

P.M. is a scientific co-founder of Navega Therapeutics, Boundless Biosciences, Shape Therapeutics and Engine Biosciences. The terms of these arrangements have been reviewed and approved by the University of California, San Diego, in accordance with its conflict-of-interest policies.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Portell, A., Mali, P. Mutation corrections in spinal muscular atrophy. Nat. Biomed. Eng 8, 111–113 (2024). https://doi.org/10.1038/s41551-023-01166-3

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41551-023-01166-3

Search

Advanced search

Quick links

Nature Briefing: Translational Research

Sign up for the Nature Briefing: Translational Research newsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research