Associated Papers
Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.
Heymann JB et al.
Progress in Retinal and Eye Research, 2023
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Molday RS et al.
Progress in Retinal and Eye Research, 2012
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
Gleghorn LJ et al.
The Biochemical Journal, 2009
Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose.
Dyka FM et al.
Biochemistry, 2008
Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.
Wu WW et al.
The Journal of Biological Chemistry, 2003
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