Blindness in Usher Syndrome 1B

摘要: The turnover of phototransductive membrane is an essential process for the viability photoreceptor cells. Molecular motors are likely candidates trafficking during various stages its turnover. Our studies molecular in cells and RPE aimed at understanding mechanisms involved cellular basis some forms retinal degeneration. Results described here represent initial on role myosin VIIa retina. Defects VIIa, gene have been found to cause Usher syndrome. Myosin was localized apical processes connecting cilium In retinas shaker-1 mice, which express mutant only identifiable structural defect mislocalization melanosomes RPE. Disk shedding did not appear be affected. Nevertheless, localization suggests that protein might transporting outer segment.