Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation

Autor: Sangeetha Kandoi, Cassandra Martinez, Kevin Xu Chen, Miika Mehine, L Vinod K Reddy, Brian C Mansfield, Jacque L Duncan, Deepak A Lamba

Publikováno v: eLife, Vol 12 (2024)

Retinitis pigmentosa (RP), a heterogenous group of inherited retinal disorder, causes slow progressive vision loss with no effective treatments available. Mutations in the rhodopsin gene (RHO) account for ~25% cases of autosomal dominant RP (adRP). I

Externí odkaz: https://doaj.org/article/7450c3797a71493d85bdb55da0488e53

Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation.

Autor: Kandoi S; Department of Ophthalmology, University of California San Francisco, CA, USA.; Eli and Edythe Broad Center of Regeneration Medicine & Stem Cell Research, University of California San Francisco, CA, USA., Martinez C; Department of Ophthalmology, University of California San Francisco, CA, USA.; Eli and Edythe Broad Center of Regeneration Medicine & Stem Cell Research, University of California San Francisco, CA, USA., Chen KX; Eli and Edythe Broad Center of Regeneration Medicine & Stem Cell Research, University of California San Francisco, CA, USA., Reddy LVK; Department of Ophthalmology, University of California San Francisco, CA, USA.; Eli and Edythe Broad Center of Regeneration Medicine & Stem Cell Research, University of California San Francisco, CA, USA., Mehine M; Blueprint Genetics, Helsinki, Finland., Mansfield BC; Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD USA., Duncan JL; Department of Ophthalmology, University of California San Francisco, CA, USA., Lamba DA; Department of Ophthalmology, University of California San Francisco, CA, USA.; Eli and Edythe Broad Center of Regeneration Medicine & Stem Cell Research, University of California San Francisco, CA, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Nov 06. Date of Electronic Publication: 2023 Nov 06.