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Cited by 38Tuberous Sclerosis Complex ResearchVirus-based gene therapy researchRNA Interference and Gene Delivery

Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin

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Cheah, Pike-See, Prabhakar, Shilpa, Yellen, David, Beauchamp, Roberta L., Zhang, Xuan, Kasamatsu, Shingo, Bronson, Roderick T., Thiele, Elizabeth A. +9 more·2021·Science Advances
DOI 10.1126/sciadv.abb1703PMC PMC7793581
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Abstract

Gene therapy for tuberous sclerosis type 2 proved beneficial in a mouse model of the disease, extending life span.

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  • This is the first description of an AAV-based gene replacement therapy for TSC type 2.

    “This is the first description of an AAV-based gene replacement therapy for TSC type 2, whose further development will be particularly beneficial to TSC type 2 patients currently subjected to a regimen consisting of periodic administration of therapeutic drugs (e.g.rapamycin analogs), as gene replacement therapy would require a single AAV injection.”

    From Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders (2022) · cites this paper as [111]

  • A mini-gene approach showed that intravenous injection of AAV9-mini-TSC2 in a TSC2-mouse model greatly extended survival, while reducing brain pathology.

    “Recently, a mini-gene approach showed that intravenous injection of AAV9-mini-TSC2 in a TSC2-mouse model greatly extended survival, while reducing brain pathology [111].”

    From Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders (2022) · cites this paper as [111]

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Authors
Cheah, P.-S., Prabhakar, S., Yellen, D., Beauchamp, R. L., Zhang, X., Kasamatsu, S., Bronson, R. T., Thiele, E. A., Kwiatkowski, D. J., Stemmer-Rachamimov, A., György, B., Ling, K.-H., Kaneki, M., Tannous, B. A., Ramesh, V., Maguire, C. A., & Breakefield, X. O.
Affiliations
  • Universiti Putra Malaysia (MY)
  • Harvard University (US)
  • Massachusetts General Hospital (US)
  • Brigham and Women's Hospital (US)
  • Howard Hughes Medical Institute (US)
Corresponding author
Breakefield, Xandra O.
ORCID
Venue
Science Advances
Publisher
American Association for the Advancement of Science (AAAS)
Published
2021-01-08
Volume
7
Issue
2
ISSN
2375-2548 (ISSN-L)
DOI
10.1126/sciadv.abb1703
PMC
PMC7793581
OpenAlex
W3119625315
Cited by
38
References
8
Citations by year
2026: 4 · 2025: 7 · 2024: 10 · 2023: 6 · 2022: 4 · 2021: 7
FWCI
4.24
Type
journal article
Language
en
Open access
Licence
Locations
  • Science Advances (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (R01GM115552, R01DC017117-01A1, 1R61NS108232)
  • U.S. Department of Defense (W81XWH-13-1-0076)
Topics
  • Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
Keywords
tuberin, AAV9, gene therapy, floxed allele, neuropathology, lifespan extension, intravenous delivery, mouse model

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