ArticleStem cell research & therapy2024
Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.
Article in Stem cell research & therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.Stem cell reviews and reports · 2025Pooled it
- Organoids - the future of pre-clinical development of AAV gene therapy for CNS disorders.Gene therapy · 2026Review
- Current Advances and Applications of Retinal Organoids.Neuroscience bulletin · 2026Review
- Engineering Human Retinal Organoids and Eye-on-a-Chip Models for Degenerative Eye Disease.ACS biomaterials science & engineering · 2026Review
- Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Microglial phagocytosis of bipolar cells triggers inner retinal degeneration in Rs1-KO mice.Cell communication and signaling : CCS · 2026Article
- Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development.Developmental neurobiology · 2026Article
- Single-Cell Transcriptomics onBiomedicines · 2025Article
- Retinal organoids mirror CRISPR-Cas9 gene editing efficiency observedMolecular therapy. Methods & clinical development · 2025Article
- Progress of iPSC-derived retinal organoids in the study of inherited retinal diseases.Orphanet journal of rare diseases · 2025Review
- AAV2.7m8 transduction of stage 2 human retinal organoids induces highly variable responses in innate and inflammatory gene expression and cytokine secretion.Experimental eye research · 2025Article
- Retinal Organoids: Innovative Tools for Understanding Retinal Degeneration.International journal of molecular sciences · 2025Review
- Review
- Damaging effect of ischemia on the development of retinal organoids derived from human embryonic stem cells.International journal of ophthalmology · 2025Article
- A Comparative Analysis of Models for AAV-Mediated Gene Therapy for Inherited Retinal Diseases.Cells · 2024Review
- Early Developmental Characteristics and Features of a Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis.International journal of molecular sciences · 2024Article
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9 authors.
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Abstract
backgroundX-linked juvenile retinoschisis (XLRS) is an inherited disease caused by RS1 gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1-associated retinal degeneration is not fully understood. Besides, animal models of XLRS have limitations in the study of XLRS. Here, we used human induced pluripotent stem cell (hiPSC)-derived retinal organoids (ROs) to investigate the disease mechanisms and potential treatments for XLRS.
methodshiPSCs reprogrammed from peripheral blood mononuclear cells of two RS1 mutant (E72K) XLRS patients were differentiated into ROs. Subsequently, we explored whether RS1 mutation could affect RO development and explore the effectiveness of RS1 gene augmentation therapy.
resultsROs derived from RS1 (E72K) mutation hiPSCs exhibited a developmental delay in the photoreceptor, retinoschisin (RS1) deficiency, and altered spontaneous activity compared with control ROs. Furthermore, the delays in development were associated with decreased expression of rod-specific precursor markers (NRL) and photoreceptor-specific markers (RCVRN). Adeno-associated virus (AAV)-mediated gene augmentation with RS1 at the photoreceptor immature stage rescued the rod photoreceptor developmental delay in ROs with the RS1 (E72K) mutation.
conclusionsThe RS1 (E72K) mutation results in the photoreceptor development delay in ROs and can be partially rescued by the RS1 gene augmentation therapy.
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