Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

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

Human molecular genetics - 1 Jan 2017

Vocke Farina, Weisschuh Nicole, Marino Valerio, Malfatti Silvia, Jacobson Samuel G, Reiff Charlotte M, Dell'Orco Daniele, Koch Karl-Wilhelm

Abstract excerpt

Macular dystrophy leads to progressive loss of central vision and shows symptoms similar to age-related macular degeneration. Genetic screening of patients diagnosed with macular dystrophy disclosed a novel mutation in the GUCA1A gene, namely a c.526C > T substitution leading to the amino acid substitution p.L176F in the guanylate cyclase-activating protein 1 (GCAP1). The same variant was found in three families...

Topics

Adolescent
Adult
Calcium
Cyclic GMP
Female
Guanylate Cyclase-Activating Proteins
Humans
Macular Degeneration
Male
Middle Aged
Molecular Dynamics Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Protein Conformation

Retinal Cone Photoreceptor Cells

Young Adult

Source

Identifiers

PMID: 28025326
DOI: 10.1093/hmg/ddw374

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.PMID 28025326Read ↗

A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.Semantic proximity Read ↗

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

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

Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.Semantic proximity Read ↗

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

Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R.Semantic proximity Read ↗

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

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

Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).Semantic proximity Read ↗

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

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

Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.