NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development

While dysfunction and death of light-detecting photoreceptor cells underlie most inherited retinal dystrophies, knowledge of the species-specific details of human rod and cone photoreceptor cell development remains limited. Here, we generated retinal organoids carrying retinal disease-causing varian...

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Veröffentlicht in:	The Journal of clinical investigation 2024-04, Vol.134 (11), p.1-16
Hauptverfasser:	Mullin, Nathaniel K, Bohrer, Laura R, Voigt, Andrew P, Lozano, Lola P, Wright, Allison T, Bonilha, Vera L, Mullins, Robert F, Stone, Edwin M, Tucker, Budd A
Format:	Artikel
Sprache:	eng
Schlagworte:	Animal models Cell death Cell Differentiation Cells CRISPR Disease control Humans Light Light Signal Transduction - genetics Maturation Mutation Organoids Organoids - metabolism Organoids - pathology Orphan Nuclear Receptors - genetics Orphan Nuclear Receptors - metabolism Patients Photoreceptors Phototransduction Pluripotency Protein expression Proteins Retina Retina - growth & development Retina - metabolism Retina - pathology Retinal Cone Photoreceptor Cells - metabolism Retinal Cone Photoreceptor Cells - pathology Retinal Rod Photoreceptor Cells - metabolism Retinal Rod Photoreceptor Cells - pathology Rhodopsin Rods Single-Cell Analysis Transcription factors
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