Article
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.
Investigative ophthalmology & visual science - 1 Jan 2011
Graziotto John J, Farkas Michael H, Bujakowska Kinga, Deramaudt Bertrand M, Zhang Qi, Nandrot Emeline F, Inglehearn Chris F, Bhattacharya Shomi S, Pierce Eric A
Abstract excerpt
PURPOSE: Mutations in genes that produce proteins involved in mRNA splicing, including pre-mRNA processing factors 3, 8, and 31 (PRPF3, 8, and 31), RP9, and SNRNP200 are common causes of the late-onset inherited blinding disorder retinitis pigmentosa (RP). It is not known how mutations in these ubiquitously expressed genes lead to retina-specific disease. To investigate the pathogenesis of the RNA splicing factor...
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