Article
Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q).
Investigative ophthalmology & visual science - 1 Nov 2008
Davis Richard J, Tosi Joaquin, Janisch Kerstin M, Kasanuki J Mie, Wang Nan-Kai, Kong Jian, Tsui Ilene, Cilluffo Marianne, Woodruff Michael L, Fain Gordon L, Lin Chyuan-Sheng, Tsang Stephen H
Abstract excerpt
PURPOSE: Approximately 8% of autosomal recessive retinitis pigmentosa (RP) cases worldwide are due to defects in rod-specific phosphodiesterase PDE6, a tetramer consisting of catalytic (PDE6alpha and PDE6beta) and two regulatory (PDE6gamma) subunits. In mice homozygous for a nonsense Pde6b(rd1) allele, absence of PDE6 activity is associated with retinal disease similar to humans. Although studied for 80 years,...
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