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Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

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  • معلومة اضافية
    • بيانات النشر:
      American Association for the Advancement of Science (AAAS), 2002.
    • الموضوع:
      2002
    • نبذة مختصرة :
      Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPTN (for “optineurin”). Sequence alterations in OPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The OPTN gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor–α signaling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role.
    • ISSN:
      1095-9203
      0036-8075
    • الرقم المعرف:
      10.1126/science.1066901
    • الرقم المعرف:
      edsair.doi.dedup.....f73e13dcafaf3d77b0a3692d140600b4