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Article

Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1.

Novartis Foundation symposium - 1 Jan 2004

Hunt David M, Wilkie Susan E, Newbold Richard, Deery Evelyne, Warren Martin J, Bhattacharya Shomi S, Zhang Kang

Abstract excerpt

The regulation of cGMP levels is central to the normal process of phototransduction in both cone and rod photoreceptor cells. Two of the proteins involved in this process are the enzyme, retinal guanylate cyclase (retGC), and its activating protein (GCAP) through which activity is regulated via changes in cellular Ca2+ levels. Dominant cone-rod dystrophies arising from changes in retGC1 are essentially restricted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14750595
DOI: 10.1002/0470092645.ch4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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