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Rescue of Enzymatic Function for Disease-associated RPE65 Proteins Containing Various Missense Mutations in Non-active Sites

Over 70 different missense mutations, including a dominant mutation, in RPE65 retinoid isomerase are associated with distinct forms of retinal degeneration; however, the disease mechanisms for most of these mutations have not been studied. Although some mutations have been shown to abolish enzyme ac...

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Detalles Bibliográficos
Autores principales: Li, Songhua, Izumi, Tadahide, Hu, Jane, Jin, Heather H., Siddiqui, Ahmed-Abdul A., Jacobson, Samuel G., Bok, Dean, Jin, Minghao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081934/
https://www.ncbi.nlm.nih.gov/pubmed/24849605
http://dx.doi.org/10.1074/jbc.M114.552117