Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis.

@article{Kanaya2004AbolishedIO,
  title={Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis.},
  author={Koichi Kanaya and Melanie M. Sohocki and Tetsu Kamitani},
  journal={Biochemical and biophysical research communications},
  year={2004},
  volume={317 3},
  pages={768-73}
}
Leber congenital amaurosis (LCA) is often considered the most severe inherited retinopathy, and AIPL1 was the fourth gene identified as associated with LCA. Although the function of AIPL1 is unknown, it has been reported to interact with NUB1. Here, we searched for a NUB1-binding site on AIPL1 and located it between amino acid residues 181 and 330 in AIPL1. Importantly, many LCA-associated mutations of AIPL1 have been found at this site. Hence, we hypothesized that the interaction between NUB1… CONTINUE READING

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