The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of MAP kinase signaling and apoptosis in the retina

URN to cite this document:: urn:nbn:de:bvb:355-epub-350594
DOI to cite this document:: 10.5283/epub.35059

Friedrich, Ulrike ; Plössl, Karolina

; Weber, Bernhard H. F.

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Date of publication of this fulltext: 18 Jan 2017 09:14

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Abstract

X-linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy in young males, caused by mutations in the RS1 gene. The function of the encoded protein, termed retinoschisin, and the molecular mechanisms underlying XLRS pathogenesis are still unresolved, although a direct interaction partner of the secreted retinoschisin, the retinal Na/K-ATPase, was recently identified. Earlier gene ...