Article

Loss of INPP5E affects photoreceptor outer segment membrane biogenesis in iPSC-derived human retinal organoids

2025-08-29

Abstract excerpt

Mutations in the ciliary protein INPP5E, encoded by inositol polyphosphate-5-phosphatase E, can cause retinal degeneration as part of the ciliopathy Joubert Syndrome or non-syndromic retinitis pigmentosa (RP). INPP5E regulates the membrane makeup of the primary cilium, however its function in the specialized sensory photoreceptor cells of the human retina remain unclear. Here we utilize control and CRISPR/Cas9-gen...

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Literature Corpus work: b6baae11-7fc0-59dc-8510-0d96a9da037d
DOI: 10.1101/2025.08.25.672060

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