Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.

doi:10.1016/j.exer.2018.07.021

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Article

Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.

Experimental eye research - 1 Dec 2018

Plössl Karolina, Schmid Verena, Straub Kristina, Schmid Carina, Ammon Mirjam, Merkl Rainer, Weber Bernhard H F, Friedrich Ulrike

Abstract excerpt

Mutations in the RS1 gene encoding retinoschisin cause X-linked juvenile retinoschisis (XLRS), a hereditary retinal dystrophy in males. While most of the XLRS associated mutations strongly interfere with cellular secretion, this is not true for mutants RS1-F108C, -R141G, -R141H, -R182C, -H207Q and -R209H. Native retinoschisin builds double-octamers and binds to retinal membranes, interacting with the retinal...

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PMID: 30040949
DOI: 10.1016/j.exer.2018.07.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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