Evidence map›Paper›PMID 32531194›Full record

ArticleStem cell reports2020

Retinal Ganglion Cells With a Glaucoma OPTN(E50K) Mutation Exhibit Neurodegenerative Phenotypes when Derived from Three-Dimensional Retinal Organoids.

Kirstin B VanderWall, Kang-Chieh Huang, Yanling Pan, Sailee S Lavekar, Clarisse M Fligor, Anna R Allsop, Kelly A Lentsch, Pengtao Dang, Chi Zhang, Henry C Tseng and 2 more

Abstract read
In one paragraph

Article in Stem cell reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.

0numbers the graph read from it
0cells of the map it votes in
63citing 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

63 citing papers in PubMed.

  1. Article
  2. Neuroinflammation in glaucoma: a myriad of cellular pathways and players.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
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  19. Article
  20. Protein misfolding and mitochondrial dysfunction in glaucoma.Frontiers in cell and developmental biology · 2025
    Review

3 more citing papers are in PubMed but not listed here.

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

12 authors.

Kirstin B VanderWallDepartment of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Kang-Chieh HuangDepartment of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Yanling PanIndiana BioMedical Gateway Program, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Sailee S LavekarDepartment of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Clarisse M FligorDepartment of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Anna R AllsopDepartment of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Kelly A LentschDepartment of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN 46202, USA.
Pengtao DangDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Chi ZhangDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Henry C TsengDuke Eye Center and Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA.
Theodore R CumminsDepartment of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN 46202, USA; Stark Neurosciences Research Institute, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Jason S MeyerDepartment of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN 46202, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA; Stark Neurosciences Research Institute, Indiana University School of Medicine, Indianapolis, IN 46202, USA; Department of Ophthalmology, Glick Eye Institute, Indiana University School of Medicine, Indianapolis, IN 46202, USA. Electronic address: meyerjas@iu.edu.

Funding

Quality Assurance and Quality Control Project Management: Improving Submissions and Study Conduct in the Human Subjects Research Prior Approval ProcessUL1TR002529 · NCATS · INDIANA UNIVERSITY INDIANAPOLIS · PI MOE, SHARON M, WIEHE, SARAH ELIZABETH · 2018 to 2022
$27.2M
Derivation and Disease Modeling of Human Stem Cell-Derived Retinal Ganglion CellsR01EY024984 · NEI · INDIANA UNIVERSITY INDIANAPOLIS · PI MEYER, JASON STEPHEN · 2015 to 2019
$2.1M
Targeting the diversity of retinal ganglion cells for replacement therapyR21EY031120 · NEI · INDIANA UNIVERSITY INDIANAPOLIS · PI FORTUNE, BRAD, MEYER, JASON STEPHEN · 2019 to 2019
$346k
NCATS NIH HHS UL1 TR002529NEI NIH HHS R01 EY024984NEI NIH HHS R21 EY031120
6 · The paper itself

Abstract

Retinal ganglion cells (RGCs) serve as the connection between the eye and the brain, with this connection disrupted in glaucoma. Numerous cellular mechanisms have been associated with glaucomatous neurodegeneration, and useful cellular models of glaucoma allow for the precise analysis of degenerative phenotypes. Human pluripotent stem cells (hPSCs) serve as powerful tools for studying human disease, particularly cellular mechanisms underlying neurodegeneration. Thus, efforts focused upon hPSCs with an E50K mutation in the Optineurin (OPTN) gene, a leading cause of inherited forms of glaucoma. CRISPR/Cas9 gene editing introduced the OPTN(E50K) mutation into existing lines of hPSCs, as well as generating isogenic controls from patient-derived lines. RGCs differentiated from OPTN(E50K) hPSCs exhibited numerous neurodegenerative deficits, including neurite retraction, autophagy dysfunction, apoptosis, and increased excitability. These results demonstrate the utility of OPTN(E50K) RGCs as an in vitro model of neurodegeneration, with the opportunity to develop novel therapeutic approaches for glaucoma.

Indexed as

AnimalsApoptosisAutophagyCell Cycle ProteinsCell DifferentiationCRISPR-Cas SystemsDisease Models, AnimalDown-RegulationGene EditingGlaucomaHumansMembrane Transport ProteinsMicrotubule-Associated ProteinsMutationNerve DegenerationOrganoidsCell Cycle ProteinsMAP1LC3A protein, humanMembrane Transport ProteinsMicrotubule-Associated ProteinsOPTN protein, humanautophagyCRISPRdifferentiationdiseasegene editingglaucomaiPSCmodelingneurodegenerationretinastem cell

Identifiers

PMID32531194
PMCPMC7363877

What OpenQuestion holds

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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.