GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness
Igor V. Peshenko, Elena V. Olshevskaya, Alexander M. Dizhoor
Abstract
-harboring homodimer. The heterodimer was also more resistant than homodimers to inhibition by RD3. The observed biochemical changes can explain the dominant CORD6 blindness and recessive LCA1 blindness, both of which affect rods and cones, but they cannot explain the selective loss of rod function in recessive CSNB.
Topics & Concepts
GUCY2DVisual phototransductionBiologyRetinal degenerationHEK 293 cellsMutationRetinalCell biologyGeneticsDystrophyGeneBiochemistryCyclaseReceptorGuanylate cyclase 2CRetinal Development and DisordersRetinal Diseases and TreatmentsPhotoreceptor and optogenetics research