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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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: 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
Sprog:Inglês
Udgivet: National Academy of Sciences 2018
Fag:
PNAS Plus
Online adgang: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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