Evidence map›Paper›PMID 37385300›Full record

ReviewPharmacology & therapeutics2023

Retina and RPE lipid profile changes linked with ABCA4 associated Stargardt's maculopathy.

Mitra Farnoodian, Devika Bose, Francesca Barone, Luke Mathew Nelson, Marisa Boyle, Bokkyoo Jun, Khanh Do, William Gordon, Marie-Audrey Kautzmann Guerin, Rasangi Perera and 6 more

Open access · greenAbstract readReview
In one paragraph

Review in Pharmacology & therapeutics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.6field-weighted citation impact, top 10% 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

15 citing papers in PubMed, 17 citations in OpenAlex.

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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

16 authors at 4 institutions in 2 countries.

Mitra FarnoodianOcular and Stem Cell Translational Research Section, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Devika BoseOcular and Stem Cell Translational Research Section, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Francesca BaroneOcular and Stem Cell Translational Research Section, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Luke Mathew NelsonOcular and Stem Cell Translational Research Section, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Marisa BoyleOcular and Stem Cell Translational Research Section, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Bokkyoo JunNeuroscience Center of Excellence, School of Medicine, Louisiana State University Health New Orleans, New Orleans, USA.
Khanh DoFaculty of Medicine, Phenikaa University, Hanoi, Viet Nam.
William GordonNeuroscience Center of Excellence, School of Medicine, Louisiana State University Health New Orleans, New Orleans, USA.
Marie-Audrey Kautzmann GuerinNeuroscience Center of Excellence, School of Medicine, Louisiana State University Health New Orleans, New Orleans, USA.
Rasangi PereraNeuroscience Center of Excellence, School of Medicine, Louisiana State University Health New Orleans, New Orleans, USA.
Jeff X JiNeuroscience Center of Excellence, School of Medicine, Louisiana State University Health New Orleans, New Orleans, USA.
Tiziana CogliatiDivision of Aging Biology, National Institute on Aging, National Institute of Health, Bethesda, MD, USA.
Ruchi SharmaOcular and Stem Cell Translational Research Section, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institute of Health, Bethesda, MD, USA.
Nicolas G BazanNeuroscience Center of Excellence, School of Medicine, Louisiana State University Health New Orleans, New Orleans, USA.
Kapil BhartiOcular and Stem Cell Translational Research Section, National Eye Institute, National Institute of Health, Bethesda, MD, USA. Electronic address: kapil.bharti@nih.gov.
National Eye Institute · USLouisiana State University Health Sciences Center New Orleans · USNational Institute on Aging · USPhenikaa University · VN

Funding

Developing patient-specific iPS cell derived RPE disease modelsZIAEY000532 · NEI · NATIONAL EYE INSTITUTE · PI BHARTI, KAPIL · 2013 to 2025
$22.0M
RPE Messengers, Transcription &Photoreceptor RenewalR01EY005121 · NEI · LSU HEALTH SCIENCES CENTER · PI Nicolas G. Bazan · 1985 to 2026
$9.1M
Intramural NIH HHS ZIA EY000532NEI NIH HHS R01 EY005121
6 · The paper itself

Abstract

Stargardt maculopathy, caused predominantly by mutations in the ABCA4 gene, is characterized by an accumulation of non-degradable visual pigment derivative, lipofuscin, in the retinal pigment epithelium (RPE) - resulting in RPE atrophy. RPE is a monolayer tissue located adjacent to retinal photoreceptors and regulates their health and functioning; RPE atrophy triggers photoreceptor cell death and vision loss in Stargardt patients. Previously, ABCA4 mutations in photoreceptors were thought to be the major contributor to lipid homeostasis defects in the eye. Recently, we demonstrated that ABCA4 loss of function in the RPE leads to cell-autonomous lipid homeostasis defects. Our work underscores that an incomplete understanding of lipid metabolism and lipid-mediated signaling in the retina and RPE are potential causes for lacking treatments for this disease. Here we report altered lipidomic in mouse and human Stargardt models. This work provides the basis for therapeutics that aim to restore lipid homeostasis in the retina and the RPE.

Indexed as

Macular DegenerationRetinal DegenerationAnimalsATP-Binding Cassette TransportersAtrophyHumansLipofuscinMiceRetinaRetinal Pigment EpitheliumABCA4 protein, humanATP-Binding Cassette TransportersLipofuscinABCA4 loss of functionABC transportersLipid homeostasisLipidomicMacular degeneration

Identifiers

PMID37385300
PMCPMC10530239
OpenAlexW4382199504

What OpenQuestion holds

Textmetadata
LicenceTDM
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.