Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.

@article{Loewen2001MolecularCO,
  title={Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.},
  author={Christopher J R Loewen and Orson L. Moritz and Robert S Molday},
  journal={The Journal of biological chemistry},
  year={2001},
  volume={276 25},
  pages={22388-96}
}
Peripherin-2 and Rom-1 are homologous tetraspanning membrane proteins that assemble into noncovalent tetramers and higher order disulfide-linked oligomers implicated in photoreceptor disc morphogenesis. Individuals who coinherit a L185P peripherin-2 mutation and a null or G113E rom-1 mutation are afflicted with retinitis pigmentosa, whereas individuals who inherit only one defective gene are normal. We examined the expression, subunit assembly, and disulfide-mediated oligomerization of L185P… CONTINUE READING

From This Paper

Topics from this paper.
20 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 20 extracted citations

Similar Papers

Loading similar papers…