Evidence map›Paper›PMID 42374981›Full record

ArticleJournal of cell science2026

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

Kae R Whiting, Mariam G Aslanyan, Lynn van Summeren, Tina Beyer, Katrin Dahlke, Thomas Theil, Karsten Boldt, Ronald Roepman

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of cell science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Kae R WhitingDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0002-2100-6597
Mariam G AslanyanDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0001-5675-2031
Lynn van SummerenDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.
Tina BeyerEberhard Karls University of Tübingen, Institute for Ophthalmic Research, Tübingen 72074, Germany.ORCID 0000-0002-6302-8997
Katrin DahlkeEberhard Karls University of Tübingen, Institute for Ophthalmic Research, Tübingen 72074, Germany.ORCID 0000-0001-9681-2908
Thomas TheilInstitute for Neuroscience and Cardiovascular Sciences, University of Edinburgh, Hugh Robson Building, Edinburgh EH8 9XD, UK.ORCID 0000-0001-6590-8309
Karsten BoldtEberhard Karls University of Tübingen, Institute for Ophthalmic Research, Tübingen 72074, Germany.ORCID 0000-0002-2693-689X
Ronald RoepmanDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.ORCID 0000-0002-5178-8163

Funding

European Union 861329European Union Marie Sk̢odowska-Curie grant agreement No. 861329 (SCilS)Ministerie van Onderwijs, Cultuur en Wetenschap 024.006.034 Lifelong VISIONMinistry of Education Culture and Science 024.006.034 Lifelong VISIONRadboud UniversityZonMw 04630042210010ZonMw, The Dutch Organisation for knowledge and innovation in health, healthcare and well-being PREDICT (04630042210010)
6 · The paper itself

Abstract

Mutations in the ciliary gene INPP5E, encoding inositol polyphosphate-5-phosphatase E (INPP5E), 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-generated INPP5E knockout (INPP5ED477N/D477N) human induced pluripotent stem cells (iPSCs) to generate retinal organoids (ROs). Through proteomic and immunofluorescence analysis, we show that INPP5E plays an important role in early retinal development and photoreceptor progenitor cell differentiation. In mature ROs, INPP5E localizes to the connecting cilium of photoreceptors, and the loss of INPP5E leads to altered localization of ARL13B and rhodopsin in mature photoreceptors. Furthermore, photoreceptor outer segment structure is affected, leading to elongated outer segment membranes in both cone and rod photoreceptors, suggesting an important role for INPP5E in photoreceptor outer segment membrane biogenesis. Together, these data underline the importance of INPP5E in retina development and photoreceptor structure and highlight the usability of ROs to study protein function in a human context.

Indexed as

Induced Pluripotent Stem CellsOrganoidsPhosphoric Monoester HydrolasesRetinaRetinal Photoreceptor Cell Outer SegmentADP-Ribosylation FactorsCell DifferentiationHumansPhosphoinositide 5-PhosphatasesRhodopsinADP-Ribosylation FactorsARL13B protein, humanPhosphoinositide 5-PhosphatasesPhosphoric Monoester HydrolasesRhodopsinCiliaINPP5EMembrane biogenesisRetinal ciliopathiesRetinal developmentRetinal organoids

Identifiers

PMID42374981
PMCPMC13450897

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.