Retinal degeneration gene

Jomary C, Vincent K, Grist J, Neal M, Jones S. Rescue of photoreceptor function by AAV-mediated gene transfer in a mouse model of inherited retinal degeneration. Gene Ther 1997 4 683-690. 

Anderson, R. E., Maude, M. B., Alvarez, R. A, Acland, G. and Aguirre, G. D. A hypothesis to explain the reduced blood levels of docosahexaenoic acid in inherited retinal degenerations caused by mutations in genes encoding retina-specific proteins. Lipids 34, S235-S237,1999. 

Semp 1 e-Rowland, S.L., Lee, N.R., Van Hooser, J.P., Palczewski, K., and Baehr, W. (1998). A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc. Natl. Acad. Sci. USA 95 1271—1276. 

Achenbach, S., Liu, Q. and Pierce E.A. (2004) The RPl gene and protein in photoreceptor biology. In Photoreceptor cell biology and inherited retinal degenerations. D.S. Williams, ed. (Singapore World Scientific Publishing Co. Pte. Ltd.), pp. 223-257. 

Aceruloplasminaemia is a very rare, autosomal recessive disease with diffuse iron overload. It is caused by a mutation of the ceruloplasmin gene. This leads to excessive iron storage, mainly in the brain, liver and pancreas. The principal symptoms are increased serum ferritin, decreased serum iron and transferrin saturation as well as extrapyramidal disturbances, retinal degeneration, cerebellar ataxia and diabetes mellitus. (486-488) (s. tab. 31.17)... 

Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, et al. 1991. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354 480-483. 

Keen TJ, Inglehearn CF. 1996. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Hum Mutat 8 ... 

Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, et al. 1993. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy (see comments). Nat Genet 3 213-218. 

Taylor JP et al (2003) Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein. Genes Dev 17(12) 1463-1468... 

Successful application of ocular gene therapy has been demonstrated in animal diseases or animal models of human disease. The most encouraging results in the field of ocular gene therapy involve treatment of genetically inherited retinal degenerations occurring in various animal species. Conventional pharmacologic approaches... 

Ali R, Sarra GM, Stephens C, et al. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nature Genet 2000 25 306-310. 

Bennett J, Tanabe T, Sun D, et al. Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nature Med 1996 2 649-654. 

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