Evidence map›Paper›PMID 28246391›Full record

ArticleScientific reports2017

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs.

Conor M Ramsden, Britta Nommiste, Amelia R Lane, Amanda-Jayne F Carr, Michael B Powner, Matthew J K Smart, Li Li Chen, Manickam N Muthiah, Andrew R Webster, Anthony T Moore and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
3.4field-weighted citation impact, top 7% of its field
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

27 citing papers in PubMed, 55 citations in OpenAlex.

  1. Review
  2. Phagocytosis by the retinal pigment epithelium: New insights into polarized cell mechanics.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025
    Review
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Regulation of the rhythmic diversity of daily photoreceptor outer segment phagocytosis in vivo.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022
    Review
  9. Review
  10. Review
  11. Article
  12. Article
  13. Translational Read-Through Therapy ofInternational journal of molecular sciences · 2020
    Article
  14. Article
  15. Article
  16. Article
  17. Human iPSC banking: barriers and opportunities.Journal of biomedical science · 2019
    Review
  18. Article
  19. Article
  20. Review
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

13 authors at 3 institutions in 3 countries.

Conor M RamsdenDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.ORCID 0000-0002-4320-2994
Britta NommisteDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Amelia R LaneDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Amanda-Jayne F CarrDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.ORCID 0000-0002-5469-0030
Michael B PownerDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Matthew J K SmartDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Li Li ChenDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Manickam N MuthiahNIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, EC1V 2PD, UK.
Andrew R WebsterDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Anthony T MooreDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Michael E CheethamDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Lyndon da CruzDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Peter J CoffeyDepartment of Ocular Biology and Therapeutics (ORBIT), Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK. p.coffey@ucl.ac.uk.
Institute of Ophthalmology · MXMoorfields Eye Hospital NHS Foundation Trust · GBCity, University of London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous group of diseases, adequate disease models are required in order to better understand pathology and to test potential therapies. Induced pluripotent stem cells offer a new way to recapitulate patient specific diseases in vitro, providing an almost limitless amount of material to study. We used fibroblast-derived induced pluripotent stem cells to generate retinal pigment epithelium (RPE) from an individual suffering from retinitis pigmentosa associated with biallelic variants in MERTK. MERTK has an essential role in phagocytosis, one of the major functions of the RPE. The MERTK deficiency in this individual results from a nonsense variant and so the MERTK-RPE cells were subsequently treated with two translational readthrough inducing drugs (G418 & PTC124) to investigate potential restoration of expression of the affected gene and production of a full-length protein. The data show that PTC124 was able to reinstate phagocytosis of labeled photoreceptor outer segments at a reduced, but significant level. These findings represent a confirmation of the usefulness of iPSC derived disease specific models in investigating the pathogenesis and screening potential treatments for these rare blinding disorders.

Indexed as

PhagocytosisAdultc-Mer Tyrosine KinaseGentamicinsHumansInduced Pluripotent Stem CellsMaleOxadiazolesPeptide Chain Elongation, TranslationalPhotoreceptor CellsRetinal Pigment EpitheliumRetinitis Pigmentosaantibiotic G 418atalurenc-Mer Tyrosine KinaseGentamicinsOxadiazoles

Identifiers

PMID28246391
PMCPMC5427915
OpenAlexW2592850910

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.