Gene Symbol: Pde6b
Description: phosphodiesterase 6B
Alias: rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide, phosphodiesterase 6B, cGMP-specific, rod, beta
Saga M, Mashima Y, Akeo K, Kudoh J, Oguchi Y, Shimizu N. A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. Curr Eye Res. 1998;17:332-5 pubmed
..Thus, the Ile535Asn mutation is an additional missense mutation which is responsible for the pathogenesis of arRP. ..
Wahlin K, Adler R, Zack D, Campochiaro P. Neurotrophic signaling in normal and degenerating rodent retinas. Exp Eye Res. 2001;73:693-701 pubmed
..These data add to the mounting evidence suggesting that neurotrophic factors act indirectly through Müller cells to promote photoreceptor survival. ..
Cote R. Characteristics of photoreceptor PDE (PDE6): similarities and differences to PDE5. Int J Impot Res. 2004;16 Suppl 1:S28-33 pubmed
..Most PDE5 inhibitors inhibit PDE6 with similar potency, and electroretinogram studies show modest effects of PDE5 inhibitors on visual function-an observation potentially important in designing PDE5-specific therapeutic agents. ..
Chang B, Hawes N, Pardue M, German A, Hurd R, Davisson M, et al
. Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene. Vision Res. 2007;47:624-33 pubmed
..by a missense point mutation in exon 13 of the beta-subunit of the rod cGMP phosphodiesterase (beta-PDE) gene (Pde6b). The gene symbol for this strain was set as Pde6brd10, abbreviated rd10 hereafter...
Bazhin A, Tambor V, Dikov B, Philippov P, Schadendorf D, Eichmüller S. cGMP-phosphodiesterase 6, transducin and Wnt5a/Frizzled-2-signaling control cGMP and Ca(2+) homeostasis in melanoma cells. Cell Mol Life Sci. 2010;67:817-28 pubmed publisher
..Thus, the aberrant expression of PDE6 may control cGMP metabolism and calcium homeostasis in melanoma cells. ..
Daiger S, Sullivan L, Bowne S. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132-41 pubmed publisher
..In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease. ..
Wright A, Chakarova C, Abd El Aziz M, Bhattacharya S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273-84 pubmed publisher
..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise. ..
Hagstrom S, Watson R, Pauer G, Grossman G. Tulp1 is involved in specific photoreceptor protein transport pathways. Adv Exp Med Biol. 2012;723:783-9 pubmed publisher