Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic <i>CRB1</i> single nucleotide variant-Reference-Cited by-同舟云学术

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Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant

Published:2022-05-10 Issue:5 Volume:43 Page:661-670
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Bellingrath J.-S.¹²,McClements M. E.¹²,Shanks M.³,Clouston P.³,Fischer M. D.¹²,MacLaren R. E.¹²

Affiliation:

1. Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK

2. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

3. Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Funder

St Cross Mabel Churn Scholarship and the NIHR Oxford Biomedical Research Center

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2073599

Reference77 articles.

1. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

2. Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

3. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

4. Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis

5. Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models

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1. Advancements in pre-clinical development of gene editing-based therapies to treat inherited retinal diseases;Vision Research;2023-08

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