Article

Inpp5e Is Critical for Photoreceptor Outer Segment Maintenance

2024-08-28

Abstract excerpt

In humans, inositol polyphosphate-5-phosphatase e (INPP5E) mutations cause retinal degeneration as part of Joubert and MORM syndromes and can also cause non-syndromic blindness. In mice, mutations cause a spectrum of brain, kidney, and other anomalies and prevent the formation of photoreceptor outer segments. To further explore the function of Inpp5e in photoreceptors, we generated conditional and inducible knocko...

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Literature Corpus work: d12b5aaa-ed1c-5f76-8c4e-7536c82d9437
DOI: 10.1101/2024.08.27.609873

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