Nature Communications (Mar 2017)
PABPN1 gene therapy for oculopharyngeal muscular dystrophy
- A. Malerba,
- P. Klein,
- H. Bachtarzi,
- S. A. Jarmin,
- G. Cordova,
- A. Ferry,
- V. Strings,
- M. Polay Espinoza,
- K. Mamchaoui,
- S. C. Blumen,
- J. Lacau St Guily,
- V. Mouly,
- M. Graham,
- G. Butler-Browne,
- D. A. Suhy,
- C. Trollet,
- G. Dickson
Affiliations
- A. Malerba
- School of Biological Sciences, Royal Holloway, University of London, Egham Hill
- P. Klein
- Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital
- H. Bachtarzi
- School of Biological Sciences, Royal Holloway, University of London, Egham Hill
- S. A. Jarmin
- School of Biological Sciences, Royal Holloway, University of London, Egham Hill
- G. Cordova
- Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital
- A. Ferry
- Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital
- V. Strings
- Benitec Biopharma
- M. Polay Espinoza
- Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital
- K. Mamchaoui
- Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital
- S. C. Blumen
- Department of Neurology, Hillel Yaffe Medical Center, Hadera and Rappaport Faculty of Medicine, The Technion
- J. Lacau St Guily
- Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital
- V. Mouly
- Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital
- M. Graham
- Benitec Biopharma
- G. Butler-Browne
- Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital
- D. A. Suhy
- Benitec Biopharma
- C. Trollet
- Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l’Hôpital
- G. Dickson
- School of Biological Sciences, Royal Holloway, University of London, Egham Hill
- DOI
- https://doi.org/10.1038/ncomms14848
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 14
Abstract
Oculopharyngeal muscular dystrophy is caused by trinucleotide repeat expansions in thePABPN1gene. Here the authors use AAV-based gene therapy to knockdown the mutant gene and replace it with a wild-type allele, and show effectiveness in mice and in patient cells.
