期刊
JOURNAL OF BIOLOGICAL CHEMISTRY
卷 287, 期 3, 页码 1642-1648出版社
ELSEVIER
DOI: 10.1074/jbc.R111.304428
关键词
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资金
- Foundation for Retinal Research
- Thome Foundation
- Howard Hughes Medical Institute
- Foundation Fighting Blindness
- University of Massachusetts
Retinitis pigmentosa is characterized by loss of night vision, followed by complete blindness. Over 40 genetic loci for retinitis pigmentosa have been identified in humans, primarily affecting photoreceptor structure and function. The availability of excellent animal models allows for a mechanistic characterization of the disease. Metabolic dysregulation and oxidative stress have been found to correlate with the loss of vision, particularly in cones, the type of photoreceptors that mediate daylight and color vision. The evidence that these problems actually cause loss of vision and potential therapeutic approaches targeting them are discussed.
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