Article
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy.
Human molecular genetics - 1 Jan 2001
Newbold R J, Deery E C, Walker C E, Wilkie S E, Srinivasan N, Hunt D M, Bhattacharya S S, Warren M J
Abstract excerpt
Guanylate cyclase activating protein-1 (GCAP1) is required for activation of retinal guanylate cyclase-1 (RetGC1), which is essential for recovery of photoreceptor cells to the dark state. In this paper, experimentally derived observations are reported that help in explaining why a proline-->leucine mutation at position 50 of human GCAP1 results in cone-rod dystrophy in a family carrying this mutation. The...
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