ArticleHuman molecular genetics2017
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
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 30 papers.
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Who cites it
30 citing papers in PubMed, 49 citations in OpenAlex.
- Retinitis pigmentosa elicits neurodegeneration within the visual pathway in REEP6 knockout mice.Neural regeneration research · 2026Article
- The P23H Rhodopsin Mouse Model Reveals a Novel Interaction Between the Endoplasmic Reticulum and Connecting Cilium Rootlet Within Photoreceptors.Investigative ophthalmology & visual science · 2026Article
- P23H rhodopsin accumulation causes transient disruptions to synaptic protein levels in rod photoreceptors in a model of retinitis pigmentosa.Disease models & mechanisms · 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
- Modified human mesenchymal stromal/stem cells restore cortical excitability after focal ischemic stroke in rats.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Dynamic interaction of REEP5-MFN1/2 enables mitochondrial hitchhiking on tubular ER.The Journal of cell biology · 2024Article
- Therapeutic applications of CRISPR/Cas9 gene editing technology for the treatment of ocular diseases.The FEBS journal · 2023Review
- Investigation of heterocellular features of the mouse retinal neurovascular unit by 3D electron microscopy.Journal of anatomy · 2023Article
- Effects of Different Spectrum of LEDs on Retinal Degeneration Through Regulating Endoplasmic Reticulum Stress.Translational vision science & technology · 2023Article
- The Clinical and Biological Effects of Receptor Expression-Enhancing Protein 6 in Tongue Squamous Cell Carcinoma.Biomedicines · 2023Article
- Spata7 is required for maintenance of the retinal connecting cilium.Scientific reports · 2022Article
- Cellular stress signaling and the unfolded protein response in retinal degeneration: mechanisms and therapeutic implications.Molecular neurodegeneration · 2022Review
- Transcript isoforms of Reep6 have distinct functions in the retina.Human molecular genetics · 2021Article
- Increased expression of fragmented tRNA promoted neuronal necrosis.Cell death & disease · 2021Article
- Article
- Review
- A Plasmodium homolog of ER tubule-forming proteins is required for parasite virulence.Molecular microbiology · 2020Article
- Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†.Biology of reproduction · 2020Article
- Review
- Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.Documenta ophthalmologica. Advances in ophthalmology · 2020Article
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 2 countries.
Funding
Abstract
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy. We recently identified mutations in REEP6, which encodes the receptor expression enhancing protein 6, in several families with autosomal recessive RP. REEP6 is related to the REEP and Yop1p family of ER shaping proteins and potential receptor accessory proteins, but the role of REEP6 in the retina is unknown. Here we characterize the disease mechanisms associated with loss of REEP6 function using a Reep6 knockout mouse generated by CRISPR/Cas9 gene editing. In control mice REEP6 was localized to the inner segment and outer plexiform layer of rod photoreceptors. The Reep6-/- mice exhibited progressive photoreceptor degeneration from P20 onwards. Ultrastructural analyses at P20 by transmission electron microscopy and 3View serial block face scanning EM revealed an expansion of the distal ER in the Reep6-/- rods and an increase in their number of mitochondria. Electroretinograms revealed photoreceptor dysfunction preceded degeneration, suggesting potential defects in phototransduction. There was no effect on the traffic of rhodopsin, Rom1 or peripherin/rds; however, the retinal guanylate cyclases GC1 and GC2 were severely affected in the Reep6 knockout animals, with almost undetectable expression. These changes correlated with an increase in C/EBP homologous protein (CHOP) expression and the activation of caspase 12, suggesting that ER stress contributes to cell death. Collectively, these data suggest that REEP6 plays an essential role in maintaining cGMP homeostasis though facilitating the stability and/or trafficking of guanylate cyclases and maintaining ER and mitochondrial homeostasis.
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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.