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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 knockouts of mouse Inpp5e where the gene was deleted either during outer segment formation or after outer segments were fully formed. In both cases, the loss of Inpp5e led to severe defects in photoreceptor outer segment morphology and ultimately photoreceptor cell loss. The primary morphological defect consisted of outer segment shortening and reduction in the number of newly forming discs at the outer segment base. This was accompanied by structural abnormalities of the Golgi, mislocalized rhodopsin and an accumulation of extracellular vesicles. In addition, knockout cells showed disruption of the actin network. Together, these data demonstrate that Inpp5e plays a crucial role in maintaining the outer segment and the normal process of outer segment renewal depends on the activity of this enzyme.<\/jats:p>","DOI":"10.1242\/jcs.263814","type":"journal-article","created":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T04:21:22Z","timestamp":1738038082000},"source":"Crossref","is-referenced-by-count":9,"title":["Inpp5e is crucial for photoreceptor outer segment maintenance"],"prefix":"10.1242","volume":"138","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0659-2919","authenticated-orcid":false,"given":"Mohona","family":"Gupta","sequence":"first","affiliation":[{"name":"University of Massachusetts Chan Medical School 1 Program in Molecular Medicine , , Suite 213 Biotech II, 373 Plantation Street, Worcester, MA 01605 ,","place":["USA"]},{"name":"Morningside Graduate School of Biological Sciences, University of Massachusetts Chan Medical School 2 , 55 Lake Avenue North, Worcester, MA 01655 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6832-7972","authenticated-orcid":false,"given":"Tylor R.","family":"Lewis","sequence":"additional","affiliation":[{"name":"Duke University School of Medicine 3 Department of Ophthalmology , , 2351 Erwin Rd, Durham North Carolina, NC 27710 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3387-5850","authenticated-orcid":false,"given":"Michael W.","family":"Stuck","sequence":"additional","affiliation":[{"name":"University of Massachusetts Chan Medical School 1 Program in Molecular Medicine , , Suite 213 Biotech II, 373 Plantation Street, Worcester, MA 01605 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9301-3828","authenticated-orcid":false,"given":"William J.","family":"Spencer","sequence":"additional","affiliation":[{"name":"SUNY Upstate Medical University 4 Ophthalmology and Visual Sciences , , 505 Irving Avenue, Syracuse, NY 13210 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2742-372X","authenticated-orcid":false,"given":"Natalia V.","family":"Klementieva","sequence":"additional","affiliation":[{"name":"Duke University School of Medicine 3 Department of Ophthalmology , , 2351 Erwin Rd, Durham North Carolina, NC 27710 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8394-3650","authenticated-orcid":false,"given":"Vadim Y.","family":"Arshavsky","sequence":"additional","affiliation":[{"name":"Duke University School of Medicine 3 Department of Ophthalmology , , 2351 Erwin Rd, Durham North Carolina, NC 27710 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6285-8796","authenticated-orcid":false,"given":"Gregory J.","family":"Pazour","sequence":"additional","affiliation":[{"name":"University of Massachusetts Chan Medical School 1 Program in Molecular Medicine , , Suite 213 Biotech II, 373 Plantation Street, Worcester, MA 01605 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2025,2,21]]},"reference":[{"key":"2025022408273875900_JCS263814C1","doi-asserted-by":"publisher","first-page":"1032","DOI":"10.1038\/ng.423","article-title":"Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies","volume":"41","author":"Bielas","year":"2009","journal-title":"Nat. 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