RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.

@article{Castagnet2003RPGRIP1sWD,
  title={RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.},
  author={P Castagnet and Timur A. Mavlyutov and Ying-fan Cai and F Zhong and Paulo Ferreira},
  journal={Human molecular genetics},
  year={2003},
  volume={12 15},
  pages={1847-63}
}
RPGR and RPGRIP1 are molecular partners with vital roles in retinal function. Mutations in RPGR are implicated in heterogeneous retinal phenotypes, while those in RPGRIP1 lead to Leber congenital amaurosis. RPGR and RPGRIP1s differentially localize in photoreceptors among species. This may contribute to phenotype disparities among species bearing mutations in RPGR. However, it cannot account for the phenotype heterogeneity associated with RPGR- and RPGRIP1-linked mutations in the human. The… CONTINUE READING
Highly Cited
This paper has 66 citations. REVIEW CITATIONS

10 Figures & Tables

Connections & Topics

Mentioned Connections BETA
High mass RPGRIP1 isoforms , p175/p150 , enriched in the outer segment ( OS ) compartment of photoreceptors are identified .
High mass RPGRIP1 isoforms , p175/p150 , enriched in the outer segment ( OS ) compartment of photoreceptors are identified .
All Topics

Statistics

0102030'05'06'07'08'09'10'11'12'13'14'15'16'17'18
Citations per Year

67 Citations

Semantic Scholar estimates that this publication has 67 citations based on the available data.

See our FAQ for additional information.