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• W2154631708 endingPage "2597" @default.
• W2154631708 startingPage "2589" @default.
• W2154631708 abstract "Retinitis pigmentosa is a heterogeneous group of inherited retinal disorders in which the photoreceptor cells degenerate. A line of transgenic mice expresses a mutant opsin gene that encodes three missense mutations near the amino terminus, including P23H, which is the basis for a common form of dominant retinitis pigmentosa. By studying the photoreceptor cells of these mice and their normal littermates, we found that: (1) opsin was routed correctly, (2) the concentration of opsin in the disk membranes appeared normal by freeze fracture analysis, (3) the amount of disk membrane shedding was normal, but (4) the basal disks of the outer segments were disorganized, indicating defective disk membrane morphogenesis. Defective disk membrane morphogenesis appears to result in the formation of fewer mature disks, thus accounting for observed gradual shortening of the photoreceptor outer segments with age. We suggest that abnormal disk membrane morphogenesis is the primary cellular defect that leads to blindness, and that it arises from the inability of nascent disk membranes, containing normal and mutant opsin, to interact normally with each other." @default.
• W2154631708 created "2016-06-24" @default.
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• W2154631708 date "1997-10-15" @default.
• W2154631708 modified "2023-10-09" @default.
• W2154631708 title "Defective phototransductive disk membrane morphogenesis in transgenic mice expressing opsin with a mutated N-terminal domain" @default.
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• W2154631708 doi "https://doi.org/10.1242/jcs.110.20.2589" @default.
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