Reduction of lipid accumulation rescues Bietti’s crystalline dystrophy phenotypes

Bietti’s crystalline dystrophy (BCD) is an intractable and progressive chorioretinal degenerative disease caused by mutations in the CYP4V2 gene, resulting in blindness in most patients. Although we and others have shown that retinal pigment epithelium (RPE) cells are primarily impaired in patients...

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Detalles Bibliográficos
Autores principales: Hata, Masayuki, Ikeda, Hanako O., Iwai, Sachiko, Iida, Yuto, Gotoh, Norimoto, Asaka, Isao, Ikeda, Kazutaka, Isobe, Yosuke, Hori, Aya, Nakagawa, Saori, Yamato, Susumu, Arita, Makoto, Yoshimura, Nagahisa, Tsujikawa, Akitaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2018
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899444/
https://www.ncbi.nlm.nih.gov/pubmed/29581279
http://dx.doi.org/10.1073/pnas.1717338115

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