Cyclic nucleotide phosphodiesterases (PDEs) catalyse the hydrolysis of cyclic AMP and
cyclic GMP, thereby regulating the intracellular concentrations of these cyclic nucleotides …

Inherited retinopathies (IR) are common untreatable blinding conditions. Most of them are
inherited as monogenic disorders, due to mutations in genes expressed in retinal …

Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the
death of photoreceptor and retinal pigment epithelium cells. These diseases until recently …

By catalyzing hydrolysis of cyclic adenosine monophosphate (cAMP) and cyclic guanosine
monophosphate (cGMP), cyclic nucleotide phosphodiesterases are critical regulators of their …

Abstract The US Food and Drug Administration recently approved phase I/II clinical trials for
embryonic stem (ES) cell-based retinal pigmented epithelium (RPE) transplantation, but this …

Massive parallel sequencing enables identification of numerous genetic variants in mutant
organisms, but determining pathogenicity of any one mutation can be daunting. The most …

Over the last few years, huge progress has been made with regard to the understanding of
molecular mechanisms underlying the pathogenesis of neurodegenerative diseases of the …

Hereditary diseases of the retina represent a group of diseases with several heterogeneous
mutations that have the common end result of progressive photoreceptor death leading to …

Retinitis pigmentosa (RP) encompasses a diverse group of Mendelian disorders leading to
progressive degeneration of rods and then cones. For reasons that remain unclear …

The retinal degeneration model rd10 contains a missense mutation of the catalytic PDE6 β
subunit, which hydrolyzes cGMP in response to light. This model produces cell death more …