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

Abstract 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 previousl...

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Bibliographic Details
Main Authors: María José Ruiz-Pastor, Xavier Sánchez-Sáez, Oksana Kutsyr, Henar Albertos-Arranz, Carla Sánchez-Castillo, Isabel Ortuño-Lizarán, Natalia Martínez-Gil, Lorena Vidal-Gil, Lucía Méndez, Manuel Sánchez-Martín, Victoria Maneu, Pedro Lax, Nicolás Cuenca
Format: Article
Language:English
Published: Nature Publishing Group 2023-11-01
Series:Cell Death and Disease
Online Access:https://doi.org/10.1038/s41419-023-06243-8