GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy.

Sokal, I

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. [electronic resource] - Molecular cell Jul 1998 - 129-33 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1097-2765

10.1016/s1097-2765(00)80121-5 doi


Adaptation, Physiological
Animals
Calcium--pharmacology
Calcium-Binding Proteins--chemistry
Cattle
Cell Line
Cloning, Molecular
Color Vision Defects--genetics
Cyclic GMP--metabolism
Darkness
Enzyme Activation
Eye Diseases, Hereditary--genetics
Eye Proteins--chemistry
Genes, Dominant
Guanylate Cyclase--chemistry
Guanylate Cyclase-Activating Proteins
Humans
Macular Degeneration
Moths
Mutagenesis, Site-Directed
Optic Atrophies, Hereditary--genetics
Protein Conformation
Recombinant Fusion Proteins--biosynthesis
Retinal Cone Photoreceptor Cells--metabolism
Signal Transduction--genetics
Structure-Activity Relationship