ArticlePloS one2016
Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked Retinoschisis.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.Human genetics · 2026Article
- Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.Acta ophthalmologica · 2025Article
- Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials.Frontiers in medicine · 2023Article
- Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors.Investigative ophthalmology & visual science · 2022Article
- Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.Genes · 2022Article
- Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.The Journal of cell biology · 2019Article
- Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant.BMC medical genetics · 2018Article
- The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina.Journal of cellular and molecular medicine · 2017Article
- Retinoschisin Facilitates the Function of L-Type Voltage-Gated Calcium Channels.Frontiers in cellular neuroscience · 2017Article
- Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.Human molecular genetics · 2016Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
RS1, also known as retinoschisin, is a disulphide-linked, discoidin domain containing homo-oligomeric protein that plays a crucial role in maintaining the cellular and synaptic organization of the retina. This is highlighted by the finding that over 130 mutations in RS1 cause X-linked retinoschisis, a retinal degenerative disease characterized by the splitting of the retinal cell layers, disruption of the photoreceptor-bipolar synapses, degeneration of photoreceptors, and severe loss in central vision. In this study, we investigated the arrangement of the RS1 subunits within the oligomer complex using single particle electron microscopy. RS1 was seen as two stacked rings with each ring displaying a symmetrical cog wheel-like structure with eight teeth or projections corresponding to the RS1 subunits. Three dimensional reconstruction and molecular modelling indicated that the discoidin domain, the principal functional unit of RS1, projects outward, and the Rs1 domain and C-terminal segment containing intermolecular disulphide bonds are present in the inner ring to form the core octameric structure. These studies provide a basis for further understanding the role of the novel core RS1 octameric complex in retinal cell biology and X-linked retinoschisis.
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