Molecular Mechanisms Leading to Null-protein Product from Retinoschisin (RS1) Signal-sequence Mutants in X-linked Retinoschisis (XLRS) Disease

Retinoschisin (RS1) is a cell-surface adhesion molecule expressed by photoreceptor and bipolar cells of the retina. The 24-kDa protein encodes two conserved sequence motifs: the initial signal sequence targets the protein for secretion while the larger discoidin domain is implicated in cell adhesion...

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Main Authors: Vijayasarathy, Camasamudram, Sui, Ruifang, Zeng, Yong, Yang, Guoxing, Xu, Fei, Caruso, Rafael C., Lewis, Richard A., Ziccardi, Lucia, Sieving, Paul A.
Formato: Artigo
Idioma:Inglês
Publicado: 2010
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2991635/
https://ncbi.nlm.nih.gov/pubmed/20809529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21350
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