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

Author:

Cheah Pike-See12ORCID,Prabhakar Shilpa1ORCID,Yellen David1ORCID,Beauchamp Roberta L.3,Zhang Xuan1,Kasamatsu Shingo45,Bronson Roderick T.6,Thiele Elizabeth A.78,Kwiatkowski David J.9ORCID,Stemmer-Rachamimov Anat10ORCID,György Bence111213,Ling King-Hwa1415ORCID,Kaneki Masao45,Tannous Bakhos A.1ORCID,Ramesh Vijaya3,Maguire Casey A.1ORCID,Breakefield Xandra O.1ORCID

Affiliation:

1. Molecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA, USA.

2. Department of Human Anatomy, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.

3. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

4. Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA.

5. Shriners Hospitals for Children, Boston, MA, USA.

6. Rodent Histopathology Core Facility, Harvard Medical School, Boston, MA, USA.

7. Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

8. The Pediatric Epilepsy Program, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.

9. Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA.

10. Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.

11. Department of Neurobiology and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA.

12. Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland.

13. Department of Ophthalmology, University of Basel, Basel, Switzerland.

14. Department of Genetics, Harvard Medical School, Boston, MA, USA.

15. Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.

Abstract

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

Funder

National Institutes of Health

U.S. Department of Defense

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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