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Retinal Organoid Single-Cell Transcriptomics Reveals Effects of PRPF31 Mutation on Early Müller Glial Activation and Progressive Photoreceptor Degeneration

2025-10-02

Abstract excerpt

<title>Abstract</title> <p>Retinitis pigmentosa (RP) encompasses a group of inherited retinal disorders characterized by progressive degeneration of rod and cone photoreceptors, leading to vision loss. Among RP subtypes, RP11 is linked to mutations in PRPF31, a key spliceosome component, resulting in retinal cell dysfunction. Although PRPF31 is ubiquitously expressed, its mutations predominantly impact retinal ce...

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Literature Corpus work
c66d527d-56aa-5ba0-99cd-c6ded50f5aea
DOI
10.21203/rs.3.rs-6923352/v2
Open publication

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Retinal Organoid Single-Cell Transcriptomics Reveals Effects of PRPF31 Mutation on Early Müller Glial Activation and Progressive Photoreceptor DegenerationDOI 10.21203/rs.3.rs-6923352/v2
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