Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca²⁺-Dependent Cyclic GMP Synthesis

Keyphrases

• Cyclic GMP 100%
• Photoreceptor 100%
• Ca2+ Dependence 100%
• Retinal Dystrophy 100%
• Guanylate Cyclase 100%
• GUCY2D 100%
• Autosomal Recessive 66%
• Autosomal Dominant 66%
• Ca2+ Sensor 66%
• Cone-rod Dystrophy 66%
• Leber Congenital Amaurosis 66%
• Guanylate Cyclase-activating Protein 66%
• Ca2+ 33%
• Large Families 33%
• Constitutively Active mutants 33%
• Dimerization Domain 33%
• HEK293 Cells 33%
• Cyclase 33%
• Retinal Degeneration 33%
• Catalytic Domain 33%
• Molecular Properties 33%
• Catalytic Core 33%
• Major Diseases 33%
• Enzyme Function 33%
• Microsatellite Analysis 33%
• Independent Activity 33%
• E-activities 33%
• Enzymatic Properties 33%
• Maculopathy 33%
• E Domain 33%
• Molecular Consequences 33%
• Protein Degeneration 33%

Biochemistry, Genetics and Molecular Biology

• Cyclic Guanosine Monophosphate 100%
• Photoreceptor Cell 100%
• GUCY2D 100%
• Guanylate Cyclase 100%
• Autosomal Dominant Inheritance 40%
• Leber's Congenital Amaurosis 40%
• Enzyme 20%
• Enzyme Active Site 20%
• Autosomal Recessive Inheritance 20%
• Autosomal Recessive Disorder 20%
• Dimerization 20%
• Cyclase 20%
• Maculopathy 20%
• Microsatellite 20%