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Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration
Recessive Stargardt disease (STGD1) is an inherited blinding disorder caused by mutations in the Abca4 gene. ABCA4 is a flippase in photoreceptor outer segments (OS) that translocates retinaldehyde conjugated to phosphatidylethanolamine across OS disc membranes. Loss of ABCA4 in Abca4(−/−) mice and...
Autores principales: | Lenis, Tamara L., Hu, Jane, Ng, Sze Yin, Jiang, Zhichun, Sarfare, Shanta, Lloyd, Marcia B., Esposito, Nicholas J., Samuel, William, Jaworski, Cynthia, Bok, Dean, Finnemann, Silvia C., Radeke, Monte J., Redmond, T. Michael, Travis, Gabriel H., Radu, Roxana A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
National Academy of Sciences
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6255167/ https://www.ncbi.nlm.nih.gov/pubmed/30397118 http://dx.doi.org/10.1073/pnas.1802519115 |
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