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...

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Dades bibliogràfiques
Publicat a:Proc Natl Acad Sci U S A
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2018
Matèries:
PNAS Plus
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6255167/
https://ncbi.nlm.nih.gov/pubmed/30397118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1802519115
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