ArticleCell death & disease2025
Deficiency disrupts photoreceptor viability and synaptic integrity in a choroideremia mouse model.
Article in Cell death & disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Choroideremia, an X-linked retinal dystrophy causing progressive vision loss, arises from deficient Rab escort protein-1 (REP1), critical for the prenylation of Rab proteins. The precise mechanisms linking REP1 dysfunction to retinal degeneration remain unclear. Here, we generated conditional REP1 knockout mouse to model choroideremia and dissect REP1's role in retinal homeostasis. Histological analysis revealed severe photoreceptor (PR) layer thinning by postnatal day 30, accompanied by disrupted synaptic architecture in the outer plexiform layer. Electroretinography revealed significant visual dysfunction, characterized by substantially reduced scotopic a-wave and b-wave amplitudes, indicating PR and perhaps bipolar cell (BC) impairment. RNA-Sequencing and immunofluorescence labeling showed downregulation of PR, synaptic, and phototransduction-related molecules as well as disrupted structural integrity of PRs. Transmission electron microscopy revealed ultrastructural synaptic defects, including shortened synaptic ribbons and loss of invaginated triads. Our findings establish an essential role for REP1 in maintaining PR viability and synaptic connectivity. Furthermore, we demonstrated that retinal degeneration in CHM mouse is associated with the activation of microglia mediated by the NF-κB pathway, suggesting that targeting neuroimmune is one of the potential therapies for CHM patients.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.