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Article

Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction.

Cellular and molecular life sciences : CMLS - 1 Oct 2014

Dell'Orco Daniele, Sulmann Stefan, Zägel Patrick, Marino Valerio, Koch Karl-Wilhelm

Abstract excerpt

Cone dystrophy-related mutations in guanylate cyclase-activating protein 1 (GCAP1) are known to cause severe disturbance of their Ca(2+)-sensing properties affecting also their regulatory modes. However, crucial biochemical properties of mutant GCAP1 forms have not been fully elucidated and regulatory parameters of GCAP1 mutants have not been considered within the context of a comprehensive description of the...

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PMID: 24566882
DOI: 10.1007/s00018-014-1593-4

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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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Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction.PMID 24566882Read ↗

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Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.Semantic proximity Read ↗

Involvement of the calcium sensor GCAP1 in hereditary cone dystrophiesSemantic proximity Read ↗

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.Semantic proximity Read ↗

Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A.Semantic proximity Read ↗

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

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.Semantic proximity Read ↗

The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy.Semantic proximity Read ↗

Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.Semantic proximity Read ↗

Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1.Semantic proximity Read ↗

Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis PigmentosaSemantic proximity Read ↗

GCAP1 mutations associated with autosomal dominant cone dystrophy.Semantic proximity Read ↗

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