ArticlePloS one2013
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 40 citations in OpenAlex.
- Pathological mutation L241P in Kir7.1 channel inhibits its activity in the choroid plexus epithelium and decreases cerebrospinal fluid KJournal of physiology and biochemistry · 2026Article
- Structural and functional studies of inward rectifier Kir7.1 and its regulation by the Melanocortin-4 receptor.Nature communications · 2026Article
- Cryo-EM structure of the human Kir7.1 channel reveals the molecular basis of snowflake vitreoretinal degeneration disease.Communications biology · 2026Article
- Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis.Ophthalmology science · 2026Article
- Bioactive lipid-mediated structural and functional regulation of the essential human potassium channel Kir7.1.Nature communications · 2026Article
- Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction.International journal of biological sciences · 2026Article
- Nonviral base editing of KCNJ13 mutation preserves vision in a model of inherited retinal channelopathy.The Journal of clinical investigation · 2023Article
- KAmerican journal of physiology. Renal physiology · 2023Article
- Article
- The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.American journal of physiology. Cell physiology · 2023Review
- Inward rectifier potassium (Kir) channels in the retina: living our vision.American journal of physiology. Cell physiology · 2022Review
- Kir7.1 disease mutant T153I within the inner pore affects KAmerican journal of physiology. Cell physiology · 2022Article
- Next-generation inward rectifier potassium channel modulators: discovery and molecular pharmacology.American journal of physiology. Cell physiology · 2021Review
- Retinal Development and Pathophysiology in Kcnj13 Knockout Mice.Frontiers in cell and developmental biology · 2021Article
- Kir Channel Molecular Physiology, Pharmacology, and Therapeutic Implications.Handbook of experimental pharmacology · 2021Review
- Sensing through Non-Sensing Ocular Ion Channels.International journal of molecular sciences · 2020Review
- A critical role for the inward rectifying potassium channel Kir7.1 in oligodendrocytes of the mouse optic nerve.Brain structure & function · 2020Article
- Disease Associated Mutations in KBiomolecules · 2019Review
- Late onset obesity in mice with targeted deletion of potassium inward rectifier Kir7.1 from cells expressing the melanocortin-4 receptor.Journal of neuroendocrinology · 2019Article
- G protein-coupled receptors differentially regulate glycosylation and activity of the inwardly rectifying potassium channel Kir7.1.The Journal of biological chemistry · 2018Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
Snowflake Vitreoretinal Degeneration (SVD) is associated with the R162W mutation of the Kir7.1 inwardly-rectifying potassium channel. Kir7.1 is found at the apical membrane of Retinal Pigment Epithelial (RPE) cells, adjacent to the photoreceptor neurons. The SVD phenotype ranges from RPE degeneration to an abnormal b-wave to a liquid vitreous. We sought to determine how this mutation alters the structure and function of the human Kir7.1 channel. In this study, we expressed a Kir7.1 construct with the R162W mutation in CHO cells to evaluate function of the ion channel. Compared to the wild-type protein, the mutant protein exhibited a non-functional Kir channel that resulted in depolarization of the resting membrane potential. Upon co-expression with wild-type Kir7.1, R162W mutant showed a reduction of IKir7.1 and positive shift in '0' current potential. Homology modeling based on the structure of a bacterial Kir channel protein suggested that the effect of R162W mutation is a result of loss of hydrogen bonding by the regulatory lipid binding domain of the cytoplasmic structure.
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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.