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The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis

Friedrich, U., Stöhr, Heidi, Hilfinger, D., Loenhardt, T., Schachner, M., Langmann, Thomas and Weber, Bernhard H. F. (2011) The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. Human Molecular Genetics 20, pp. 1132-1142.

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Abstract

Mutations in the RS1 gene that encodes the discoidin domain containing retinoschisin cause X-linked juvenile retinoschisis (XLRS), a common macular degeneration in males. Disorganization of retinal layers and electroretinogram abnormalities are hallmarks of the disease and are also found in mice deficient for the orthologous murine protein, indicating that retinoschisin is important for the ...

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Item type:Article
Date:2011
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1093/hmg/ddq557DOI
21196491PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:35198
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