Characterization of native retinal fluorophores involved in biosynthesis of A2E and lipofuscin-associated retinopathies.

@article{Bui2006CharacterizationON,
  title={Characterization of native retinal fluorophores involved in biosynthesis of A2E and lipofuscin-associated retinopathies.},
  author={Tam V. Bui and Yun Jon Han and Roxana A Radu and Gabriel H. Travis and Nathan L. Mata},
  journal={The Journal of biological chemistry},
  year={2006},
  volume={281 26},
  pages={18112-9}
}
Mutations in the photoreceptor-specific ABCA4 gene are associated with several inherited retinal and macular degenerations. A prominent phenotype of these diseases is the accumulation of cytotoxic lipofuscin fluorophores such as A2E within the retinal pigment epithelium. Another compound, dihydro-N-retinylidene-N-retinylphosphatidyl-ethanolamine (A2PE-H(2)), also accumulates in retinas of mice and humans harboring ABCA4 mutations and was proposed to be a precursor of A2E. The role of A2PE-H(2… CONTINUE READING

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