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Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation

Central areolar choroidal dystrophy is an inherited disorder characterized by progressive choriocapillaris atrophy and retinal degeneration and is usually associated with mutations in the PRPH2 gene. We aimed to generate and characterize a mouse model with the p.Arg195Leu mutation previously describ...

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Detalles Bibliográficos
Autores principales: Ruiz-Pastor, María José, Sánchez-Sáez, Xavier, Kutsyr, Oksana, Albertos-Arranz, Henar, Sánchez-Castillo, Carla, Ortuño-Lizarán, Isabel, Martínez-Gil, Natalia, Vidal-Gil, Lorena, Méndez, Lucía, Sánchez-Martín, Manuel, Maneu, Victoria, Lax, Pedro, Cuenca, Nicolás
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620171/
https://www.ncbi.nlm.nih.gov/pubmed/37914688
http://dx.doi.org/10.1038/s41419-023-06243-8