Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.

@article{Nguyen2002MelanosomeMI,
  title={Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.},
  author={Thuyen Thi Bich Nguyen and Edward K. Novak and Maryam Jafarkhani Kermani and Joachim Wilhelm Fluhr and Luanne Laurel Peters and Richard T. Swank and Maria L. Wei},
  journal={The Journal of investigative dermatology},
  year={2002},
  volume={119 5},
  pages={1156-64}
}
Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dilution and prolonged bleeding time. At least 15 mutant mouse strains have been classified as models of Hermansky-Pudlak syndrome. Some of the genes are implicated in intracellular vesicle trafficking: budding, targeting, and secretion. Many of the Hermansky-Pudlak syndrome genes remain uncharacterized and their functions are unknown. Clues to the functions of these genes can be found by analyzing the… CONTINUE READING