摘要
Mutations that cause protein misfolding are implicated in conditions such as retinitis pigmentosa(RP),Usher Syndrome,and myocilin associated primary open angle glaucoma.The aggregation and continuous degradation of a highly abundant misfolded protein add proteolytic load of the affected cells.The subtle balance of cellular homeostasis,once disrupted by an overwhelmed proteolytic system,will lead to cell death and tissue degeneration.
基金
supported by the NIH Grants R01 EY030991 to YC and the P30 EY008098 to the Department of Ophthalmology at University of Pittsburgh,the Ear and Eye Foundation of Pittsburgh and an unrestricted grant from Research to Prevent Blindness,New York,NY,USA。
