Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A

Missense mutations in the GUCA1A gene encoding guanylate cyclase-activating protein 1 (GCAP1) are associated with autosomal dominant cone/cone-rod (CORD) dystrophies. The nature of the inheritance pattern implies that a pool of normal GCAP proteins is present in photoreceptors together with the muta...

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Detalles Bibliográficos
Autores principales: Dell’Orco, Daniele, Dal Cortivo, Giuditta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934868/
https://www.ncbi.nlm.nih.gov/pubmed/31882816
http://dx.doi.org/10.1038/s41598-019-56606-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934868/
https://www.ncbi.nlm.nih.gov/pubmed/31882816
http://dx.doi.org/10.1038/s41598-019-56606-5

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