Evidence map›Paper›PMID 39930229›Full record

ArticleAdvances in experimental medicine and biology2025

Dysregulation of Retinal and Photoreceptor Structural Integrity Genes in ATF6

Allyssa Bradley, Masako Le, Soyeon Park, Heike Kroeger, R Luke Wiseman, Eun-Jin Lee, Jonathan H Lin

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Article in Advances in experimental medicine and biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Allyssa BradleyDepartment of Ophthalmology, Stanford University, Stanford, CA, USA.
Masako LeDepartment of Ophthalmology, Stanford University, Stanford, CA, USA.
Soyeon ParkDepartment of Ophthalmology, Stanford University, Stanford, CA, USA.
Heike KroegerDepartment of Cellular Biology, Franklin College of Arts and Sciences, Paul D. Coverdell Center for Biomedical Sciences, Athens, GA, USA.
R Luke WisemanDepartment of Molecular and Cellular Biology, The Scripps Research Institute, La Jolla, CA, USA.
Eun-Jin LeeDepartment of Ophthalmology, Stanford University, Stanford, CA, USA.
Jonathan H LinDepartment of Ophthalmology, Stanford University, Stanford, CA, USA. Jonathan.H.Lin@stanford.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

ATF6 is a key regulator of the unfolded protein response (UPR) pathway that maintains cellular homeostasis during ER stress. In people, loss of ATF6 function causes cone dysfunction, manifesting as achromatopsia (ACHM). Previously, we generated ACHM retinal organoids (ROs) from patient induced pluripotent stem cells (iPSCs) carrying mutant ATF6 variants and gene-edited ATF6-knockout (KO) human embryonic stem cells (hESCs). ACHM and ATF6-KO ROs both showed severe stunting of cone inner and outer segments. RNA-Seq analysis of ACHM 290-day-old ROs showed downregulated cone gene expression and dysregulated mitochondria and ER stress gene expression. Here, we analyzed RNA-Seq analysis of 203-day-old ATF6-KO ROs. In younger ROs, we found dysregulation of genes involved in retinal and photoreceptor structural integrity, including CRB1, EGFLAM, and VTN. In addition, we found dysregulation of ATF6 and UPR-regulated transcriptional signatures. Dysregulation of retinal and photoreceptor structural integrity genes may underlie the observed stunting of cone inner/outer segments in ATF6-achromatopsia patients.

Indexed as

Activating Transcription Factor 6Color Vision DefectsOrganoidsRetinaEndoplasmic Reticulum StressHumansInduced Pluripotent Stem CellsRetinal Cone Photoreceptor CellsUnfolded Protein ResponseActivating Transcription Factor 6ATF6 protein, humanAchromatopsiaATF6Brush border (inner segment/outer segment)ConesOuter limiting membrane (external limiting membrane)Photoreceptor structureRetinal organoidUPR

Identifiers

PMID39930229

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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.