Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types.

@article{Park2006StudiesOO,
  title={Studies of optineurin, a glaucoma gene: Golgi fragmentation and cell death from overexpression of wild-type and mutant optineurin in two ocular cell types.},
  author={Bum-Chan Park and Xiang Hui Shen and Mishan Samaraweera and Beatrice Y.J.T. Yue},
  journal={The American journal of pathology},
  year={2006},
  volume={169 6},
  pages={
          1976-89
        }
}
Optineurin (OPTN) has recently been linked to glaucoma, a major cause of blindness worldwide. Mutations in OPTN such as Glu50-->Lys (E50K) have been reported in patients, particularly those with normal pressure glaucoma. Here, we show that the endogenous OPTN was not secreted in two ocular cell types, human trabecular meshwork and retinal pigment epithelial cells. It localized instead in the cytoplasm in a diffuse pattern without a distinct association with the Golgi apparatus. When… CONTINUE READING
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