Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.

@article{Cheli2010GeneticMO,
  title={Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.},
  author={Veronica T. Cheli and Richard W. Daniels and Ruth A Godoy and Diego J Hoyle and Vasundhara R. Kandachar and Marta Starcevic and Julian A Martinez-Agosto and Stephen Poole and Aaron Diantonio and Vett K. Lloyd and Henry C. Chang and David E. Krantz and Esteban C Dell'angelica},
  journal={Human molecular genetics},
  year={2010},
  volume={19 5},
  pages={861-78}
}
Biogenesis of lysosome-related organelles complex 1 (BLOC-1) is a protein complex formed by the products of eight distinct genes. Loss-of-function mutations in two of these genes, DTNBP1 and BLOC1S3, cause Hermansky-Pudlak syndrome, a human disorder characterized by defective biogenesis of lysosome-related organelles. In addition, haplotype variants within the same two genes have been postulated to increase the risk of developing schizophrenia. However, the molecular function of BLOC-1 remains… CONTINUE READING

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