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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Vydáno v:J Biochem
Hlavní autoři: Li, Songhua, Hu, Jane, Jin, Robin J., Aiyar, Ashok, Jacobson, Samuel G., Bok, Dean, Jin, Minghao
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
Témata:
Regular Papers
On-line přístup: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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