Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy

Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). We examined the retina of kcnj13 mutant zebrafish (obelix(td15), c.502T > C p.[Phe168Leu]) to provide new insights into the pathophysiology underlying th...

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Detalles Bibliográficos
Autores principales: Toms, Maria, Burgoyne, Thomas, Tracey-White, Dhani, Richardson, Rose, Dubis, Adam M., Webster, Andrew R., Futter, Clare, Moosajee, Mariya
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/PMC6405871/
https://www.ncbi.nlm.nih.gov/pubmed/30846767
http://dx.doi.org/10.1038/s41598-019-40507-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405871/
https://www.ncbi.nlm.nih.gov/pubmed/30846767
http://dx.doi.org/10.1038/s41598-019-40507-8

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