Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. [electronic resource]
- The Journal of biological chemistry Jul 2003
- 28139-46 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0021-9258
10.1074/jbc.M302464200 doi
Amino Acid Sequence Animals Blotting, Western COS Cells Cell Adhesion Cell Line Cysteine--chemistry DNA, Complementary--metabolism Detergents--pharmacology Discoidins Disulfides--metabolism Electrophoresis, Polyacrylamide Gel Endoplasmic Reticulum--metabolism Eye Proteins--chemistry Factor V--chemistry Factor VIII--chemistry Humans Lectins--chemistry Microscopy, Fluorescence Models, Biological Models, Molecular Molecular Sequence Data Mutagenesis, Site-Directed Mutation Protein Folding Protein Structure, Tertiary Protozoan Proteins--chemistry Retinoschisis--metabolism Sequence Homology, Amino Acid Serine--chemistry Transfection