ArticleBiochimica et biophysica acta. Molecular basis of disease2024
Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.
Article in Biochimica et biophysica acta. Molecular basis of disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Genetic Analysis of Choroideremia-Related Rab Escort Proteins.International journal of molecular sciences · 2025Article
- Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.Antioxidants (Basel, Switzerland) · 2024Article
- Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia.Antioxidants (Basel, Switzerland) · 2023Article
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8 authors at 4 institutions in 3 countries.
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Abstract
Choroideremia (CHM) is a rare X-linked chorioretinal dystrophy affecting the photoreceptors, retinal pigment epithelium (RPE) and choroid, however, the involvement of the choroid in disease progression is not fully understood. CHM is caused by mutations in the CHM gene, encoding the ubiquitously expressed Rab escort protein 1 (REP1). REP1 plays an important role in intracellular trafficking of vesicles, including melanosomes. In this study, we examined the ultrastructure of the choroid in chm
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