ArticleHuman molecular genetics2010
Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 1 of them a synthesis that pooled it.
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Who cites it
81 citing papers in PubMed, 1 synthesis or guideline pooled it, 147 citations in OpenAlex.
- The role of autophagy in ocular health: mechanisms, pathologies, and therapeutic strategies.Biology direct · 2026Pooled it
- Therapeutic Window of AAV-SIRT1 Gene Therapy in Mouse Models of Optic Nerve Degeneration.Translational vision science & technology · 2026Article
- Neuroinflammation in glaucoma: a myriad of cellular pathways and players.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Optineurin modulates mTORC2/AKT/STAT3 signaling to control MHC class II expression and adaptive immunity against HSV-1.Cell reports · 2026Article
- Reversing Mitochondrial Dysfunction in Optineurin E50K Glaucoma: A Metabolic Approach to Neuroprotection.Research square · 2026Article
- Dual-functional nanoparticle formulations for simultaneous intraocular pressure reduction and neuroprotection in glaucoma: a review.Nanomedicine (London, England) · 2026Review
- Rodent Models of Glaucoma: How Mice and Rats Can Help Human Vision Move Out of the Woods and Into the Light.Cells · 2025Review
- Optineurin-facilitated axonal mitochondria delivery promotes neuroprotection and axon regeneration.Nature communications · 2025Article
- Age-related effects of optineurin deficiency in the mouse eye.Vision research · 2024Article
- Axonal mitophagy in retinal ganglion cells.Cell communication and signaling : CCS · 2024Review
- Optineurin-facilitated axonal mitochondria delivery promotes neuroprotection and axon regeneration.bioRxiv : the preprint server for biology · 2024Article
- Normal-Tension Glaucoma and Potential Clinical Links to Alzheimer's Disease.Journal of clinical medicine · 2024Review
- Glaucoma Animal Models beyond Chronic IOP Increase.International journal of molecular sciences · 2024Review
- Exploring Early-Stage Retinal Neurodegeneration in Murine Pigmentary Glaucoma: Insights From Gene Networks and miRNA Regulation Analyses.Investigative ophthalmology & visual science · 2023Article
- Review
- AUTOPHAGY IN THE EYE: FROM PHYSIOLOGY TO PATHOPHYSOLOGY.Autophagy reports · 2023Article
- Neuroprotective Effects of Transferrin in Experimental Glaucoma Models.International journal of molecular sciences · 2022Article
- Review
- Age-related visual impairments and retinal ganglion cells axonal degeneration in a mouse model harboring OPTN (E50K) mutation.Cell death & disease · 2022Article
- The Expression of Rab8, Ezrin, Radixin and Moesin in the Ciliary Body of Cynomolgus Monkeys.Juntendo Iji zasshi = Juntendo medical journal · 2022Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
Glaucoma is one of the leading causes of bilateral blindness affecting nearly 8 million people worldwide. Glaucoma is characterized by a progressive loss of retinal ganglion cells (RGCs) and is often associated with elevated intraocular pressure (IOP). However, patients with normal tension glaucoma (NTG), a subtype of primary open-angle glaucoma (POAG), develop the disease without IOP elevation. The molecular pathways leading to the pathology of NTG and POAG are still unclear. Here, we describe the phenotypic characteristics of transgenic mice overexpressing wild-type (Wt) or mutated optineurin (Optn). Mutations E50K, H486R and Optn with a deletion of the first (amino acids 153-174) or second (amino acids 426-461) leucine zipper were used for overexpression. After 16 months, histological abnormalities were exclusively observed in the retina of E50K mutant mice with loss of RGCs and connecting synapses in the peripheral retina leading to a thinning of the nerve fiber layer at the optic nerve head at normal IOP. E50K mice also showed massive apoptosis and degeneration of entire retina, leading to approximately a 28% reduction of the retina thickness. At the molecular level, introduction of the E50K mutation disrupts the interaction between Optn and Rab8 GTPase, a protein involved in the regulation of vesicle transport from Golgi to plasma membrane. Wt Optn and an active GTP-bound form of Rab8 complex were localized at the Golgi complex. These data suggest that alternation of the Optn sequence can initiate significant retinal degeneration in mice.
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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.