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Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models

The photoreceptor outer segment is a highly specialized primary cilium that is 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 affe...

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Detalles Bibliográficos
Autores principales: Corral-Serrano, Julio C., Sladen, Paul E., Ottaviani, Daniele, Rezek, Olivia F., Athanasiou, Dimitra, Jovanovic, Katarina, van der Spuy, Jacqueline, Mansfield, Brian C., Cheetham, Michael E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297203/
https://www.ncbi.nlm.nih.gov/pubmed/37371046
http://dx.doi.org/10.3390/cells12121575