Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis

RPE65 is a membrane-associated retinoid isomerase involved in the visual cycle responsible for sustaining vision. Many mutations in the human RPE65 gene are associated with distinct forms of retinal degenerative diseases. The pathogenic mechanisms for most of these mutations remain poorly understood...

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Библиографические подробности
Опубликовано в: :J Biochem
Главные авторы: Li, Songhua, Hu, Jane, Jin, Robin J., Aiyar, Ashok, Jacobson, Samuel G., Bok, Dean, Jin, Minghao
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2015
Предметы:
Regular Papers
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4516983/
https://ncbi.nlm.nih.gov/pubmed/25752820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jb/mvv028
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