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Article

Guanylate cyclase activating proteins, guanylate cyclase and disease.

Advances in experimental medicine and biology - 1 Jan 2002

Newbold Richard J, Deery Evelyne C, Payne Annette M, Wilkie Susan E, Hunt David M, Warren Martin J

Abstract excerpt

A range of cone and cone-rod dystrophies (CORD) have been observed in man, caused by mutations in retinal guanylate cyclase 1 (RetGC1) and guanylate cyclase activating protein 1 (GCAP 1). The CORD causing mutations in RetGC1 are located at a mutation "hot spot" within the dimerisation domain, where R838 is the key residue. Three disease causing mutations have been found in human GCAP1, resulting in cone or...

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PMID: 12596936
DOI: 10.1007/978-1-4615-0121-3_25

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Guanylate cyclase activating proteins, guanylate cyclase and disease.PMID 12596936Read ↗

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Retinal diseases linked with photoreceptor guanylate cyclase.Semantic proximity Read ↗

Supramolecular complexes of GCAP1: towards the development of effective biologics for inherited retinal dystrophiesSemantic proximity Read ↗

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