期刊
PROGRESS IN RETINAL AND EYE RESEARCH
卷 52, 期 -, 页码 47-63出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.preteyeres.2015.12.002
关键词
RDS; Retinal degeneration; ROM-1; Tetraspanin; Photoreceptors PRPH2
资金
- National Eye Institute [R01EY10609-MIN]
- Oklahoma Center for the Advancement of Science and Technology (SMC)
Peripherin 2 (PRPH2), also known as RDS (retinal degeneration slow) is a photoreceptor specific glycoprotein which is essential for normal photoreceptor health and vision. PRPH2/RDS is necessary for the proper formation of both rod and cone photoreceptor outer segments, the organelle specialized for visual transduction. When PRPH2/RDS is defective or absent, outer segments become disorganized or fail to form entirely and the photoreceptors subsequently degenerate. Multiple PRPH2/RDS disease-causing mutations have been found in humans, and they are associated with various blinding diseases of the retina such as macular degeneration and retinitis pigmentosa, the vast majority of which are inherited dominantly, though recessive LCA and digenic RP have also been associated with RDS mutations. Since its initial discovery, the scientific community has dedicated a considerable amount of effort to understanding the molecular function and disease mechanisms of PRPH2/RDS. This work has led to an understanding of how the PRPH2/RDS molecule assembles into complexes and functions as a necessary part of the machinery that forms new outer segment discs, as well as leading to fundamental discoveries about the mechanisms that underlie OS biogenesis. Here we discuss PRPH2/RDS-associated research and how experimental results have driven the understanding of the PRPH2/RDS protein and its role in human disease. (C) 2016 Elsevier Ltd. All rights reserved.
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