Eupatilin improves cilia defects in human CEP290 ciliopathy models

The photoreceptor outer segment is a highly specialized primary cilium essential for phototransduction and vision. Biallelic pathogenic variants in the cilia-associated gene CEP290 cause non-syndromic Leber congenital amaurosis 10 (LCA10) and syndromic diseases, where the retina is also affected. Wh...

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Detalles Bibliográficos
Autores principales: Corral-Serrano, JC, Sladen, PE, Ottaviani, D, Rezek, FO, Jovanovic, K, Athanasiou, D, van der Spuy, J, Mansfield, BC, Cheetham, ME
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187159/
https://www.ncbi.nlm.nih.gov/pubmed/37205323
http://dx.doi.org/10.1101/2023.04.12.536565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187159/
https://www.ncbi.nlm.nih.gov/pubmed/37205323
http://dx.doi.org/10.1101/2023.04.12.536565

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