ArticleHuman molecular genetics2017
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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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.
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Who cites it
26 citing papers in PubMed, 35 citations in OpenAlex.
- Retinitis pigmentosa elicits neurodegeneration within the visual pathway in REEP6 knockout mice.Neural regeneration research · 2026Article
- The expression significance and non-invasive detection of REEP6 and REEP5 in prostate cancer.BMC cancer · 2026Article
- Halofantrine protects photoreceptors in multiple models of retinal degeneration.Research square · 2026Article
- PCR-based detection of hereditary mutations inJournal of veterinary science · 2025Article
- Aerobic glycolysis and lactate regulate histone H3K18Lactylation occupancy to fine-tune gene expression in developing and mature retina.bioRxiv : the preprint server for biology · 2025Article
- Article
- Syntaxin 3B: A SNARE Protein Required for Vision.International journal of molecular sciences · 2024Review
- Murine Retina Outer Plexiform Layer Development and Transcriptome Analysis of Pre-Synapses in Photoreceptors.Life (Basel, Switzerland) · 2024Article
- Therapeutic applications of CRISPR/Cas9 gene editing technology for the treatment of ocular diseases.The FEBS journal · 2023Review
- The Clinical and Biological Effects of Receptor Expression-Enhancing Protein 6 in Tongue Squamous Cell Carcinoma.Biomedicines · 2023Article
- Exploring the eukaryotic Yip and REEP/Yop superfamily of membrane-shaping adapter proteins (MSAPs): A cacophony or harmony of structure and function?Frontiers in molecular biosciences · 2022Review
- An uncommon neuronal class conveys visual signals from rods and cones to retinal ganglion cells.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Transcript isoforms of Reep6 have distinct functions in the retina.Human molecular genetics · 2021Article
- Article
- A Plasmodium homolog of ER tubule-forming proteins is required for parasite virulence.Molecular microbiology · 2020Article
- Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Review
- REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects.Nature communications · 2020Article
- Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.Documenta ophthalmologica. Advances in ophthalmology · 2020Article
- Cataloguing and Selection of mRNAs Localized to Dendrites in Neurons and Regulated by RNA-Binding Proteins in RNA Granules.Biomolecules · 2020Review
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 2 countries.
Funding
Abstract
In retinal photoreceptors, vectorial transport of cargo is critical for transduction of visual signals, and defects in intracellular trafficking can lead to photoreceptor degeneration and vision impairment. Molecular signatures associated with routing of transport vesicles in photoreceptors are poorly understood. We previously reported the identification of a novel rod photoreceptor specific isoform of Receptor Expression Enhancing Protein (REEP) 6, which belongs to a family of proteins involved in intracellular transport of receptors to the plasma membrane. Here we show that loss of REEP6 in mice (Reep6-/-) results in progressive retinal degeneration. Rod photoreceptor dysfunction is observed in Reep6-/- mice as early as one month of age and associated with aberrant accumulation of vacuole-like structures at the apical inner segment and reduction in selected rod phototransduction proteins. We demonstrate that REEP6 is detected in a subset of Clathrin-coated vesicles and interacts with the t-SNARE, Syntaxin3. In concordance with the rod degeneration phenotype in Reep6-/- mice, whole exome sequencing identified homozygous REEP6-E75K mutation in two retinitis pigmentosa families of different ethnicities. Our studies suggest a critical function of REEP6 in trafficking of cargo via a subset of Clathrin-coated vesicles to selected membrane sites in retinal rod photoreceptors.
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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.