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Brydon EM, Bronstein R, Buskin A, et al. AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31. Mol Ther Methods Clin Dev. 2019;15:392-402doi: 10.1016/j.omtm.2019.10.014.
Brydon, E. M., Bronstein, R., Buskin, A., Lako, M., Pierce, E. A., & Fernandez-Godino, R. (2019). AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31. Molecular therapy. Methods & clinical development, 15392-402. https://doi.org/10.1016/j.omtm.2019.10.014
Brydon, Elizabeth M, et al. "AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31." Molecular therapy. Methods & clinical development vol. 15 (2019): 392-402. doi: https://doi.org/10.1016/j.omtm.2019.10.014
Brydon EM, Bronstein R, Buskin A, Lako M, Pierce EA, Fernandez-Godino R. AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31. Mol Ther Methods Clin Dev. 2019 Nov 11;15:392-402. doi: 10.1016/j.omtm.2019.10.014. eCollection 2019 Dec 13. PMID: 31890732; PMCID: PMC6909184.
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Mol Ther Methods Clin Dev. 2019 Nov 11;15:392-402. doi: 10.1016/j.omtm.2019.10.014. eCollection 2019 Dec 13.

AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31.

Molecular therapy. Methods & clinical development

Elizabeth M Brydon, Revital Bronstein, Adriana Buskin, Majlinda Lako, Eric A Pierce, Rosario Fernandez-Godino

Affiliations

  1. Department of Ophthalmology, Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
  2. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

PMID: 31890732 PMCID: PMC6909184 DOI: 10.1016/j.omtm.2019.10.014

Abstract

Retinitis pigmentosa (RP) is the most common form of inherited vision loss and is characterized by degeneration of retinal photoreceptor cells and the retinal pigment epithelium (RPE). Mutations in pre-mRNA processing factor 31 (

© 2019 The Author(s).

Keywords: AAV; PRPF31; RPE; cilia; gene therapy; haploinsuficiency; iPSC-RPE; microvilli; phagocytosis

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