| License: Creative Commons Attribution Non-commercial No Derivatives 4.0 PDF - Published Version (5MB) |
- URN to cite this document:
- urn:nbn:de:bvb:355-epub-440254
- DOI to cite this document:
- 10.5283/epub.44025
Abstract
PURPOSE. Mutations in the RS1 gene, which encodes retinoschisin, cause X-linked juvenile retinoschisis, a retinal dystrophy in males. Retinoschisin specifically interacts with the retinal sodium-potassium adenosine triphosphatase (Na/K-ATPase), a transmembrane ion pump. Na/K-ATPases also bind cardiac glycosides, which control the activity of the pump and have been linked to disturbances in ...

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