ArticleMolecular therapy : the journal of the American Society of Gene Therapy2024
Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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- DominantFrontiers in cell and developmental biology · 2025Article
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Abstract
Inherited retinal diseases (IRDs) are characterized by progressive vision loss. There are over 270 causative IRD genes, and variants within the same gene can cause clinically distinct disorders. One example is RLBP1, which encodes CRALBP. CRALBP is an essential protein in the rod and cone visual cycles that take place primarily in the retinal pigment epithelium (RPE) but also in Müller cells of the neuroretina. RLBP1 variants lead to three clinical subtypes: Bothnia dystrophy, retinitis punctata albescens, and Newfoundland rod-cone dystrophy. We modeled RLBP1-IRD subtypes using patient-specific induced pluripotent stem cell (iPSC)-derived RPE and identified pathophysiological markers that served as pertinent therapeutic read-outs. We developed an AAV2/5-mediated gene-supplementation strategy and performed a proof-of-concept study in the human models, which was validated in vivo in an Rlbp1
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