Associated Papers
A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e.
Naggert ASEN et al.
Frontiers in Molecular Neuroscience, 2022
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
The dimerization domain in outer segment guanylate cyclase is a Ca²⁺-sensitive control switch module.
Zägel P et al.
Biochemistry, 2013
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
Hughes AE et al.
Investigative Ophthalmology & Visual Science, 2012
Guanylate cyclases and associated activator proteins in retinal disease.
Hunt DM et al.
Molecular and Cellular Biochemistry, 2010
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.
Karan S et al.
Molecular and Cellular Biochemistry, 2010
Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI et al.
Progress in Retinal and Eye Research, 2008
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.
Tucker CL et al.
Molecular Vision, 2004
Mutational analysis and clinical correlation in Leber congenital amaurosis.
Dharmaraj SR et al.
Ophthalmic Genetics, 2000
An overview of Leber congenital amaurosis: a model to understand human retinal development.
Koenekoop RK
Survey of Ophthalmology, 0
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