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- W1985194979 abstract "The vertebrate photoreceptor outer segment (OS) is a highly structured and dynamic organelle specialized to transduce light signals. The elaborate membranous architecture of the OS requires peripherin/rds (P/rds), an integral membrane protein and tetraspanin protein family member. Gene‐level defects in P/rds cause a broad variety of late‐onset progressive retinal degenerations in humans and dysmorphic photoreceptors in murine and Xenopus models. Although proposed to fulfill numerous roles related to OS structural stability and renewal, P/rds molecular function remains uncertain. An increasingly resolved model of this protein's oligomeric structure can account for disease inheritance patterns and severity in some instances. Nonetheless, the pathogenic mechanisms underlying the uniquely broad spectrum of retinal diseases associated with P/rds defects are not currently well understood. Recent findings point to the possibility that P/rds acts as a multifunctional scaffolding protein for OS architecture and that partial‐loss‐of‐function mutations contribute to the hallmark phenotypic heterogeneity associated with inherited defects in RDS." @default.
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- W1985194979 date "1995-11-01" @default.
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- W1985194979 title "Canine homolog and exclusion of retinal degeneration slow (rds) as the gene for early retinal degeneration (erd) in the dog" @default.
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- W1985194979 doi "https://doi.org/10.1016/s0014-4835(05)80059-4" @default.
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