Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse.

@article{Zhen1999AbnormalEA,
  title={Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse.},
  author={Lijie Zhen and Shuguang Jiang and Lei Feng and Nicholas A. Bright and Andrew A Peden and Albert B. Seymour and Edward K. Novak and Rosemary W. Elliott and Michael B. Gorin and Margaret S Robinson and Richard T. Swank},
  journal={Blood},
  year={1999},
  volume={94 1},
  pages={146-55}
}
The pearl mouse is a model for Hermansky Pudlak Syndrome (HPS), whose symptoms include hypopigmentation, lysosomal abnormalities, and prolonged bleeding due to platelet storage pool deficiency (SPD). The gene for pearl has recently been identified as the beta3A subunit of the AP-3 adaptor complex. The objective of these experiments was to determine if the expression and subcellular distribution of the AP-3 complex were altered in pearl platelets and other tissues. The beta3A subunit was… CONTINUE READING
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Mutation of the AP-3 delta subunit in the mocha mouse links endosomal cargo transport to storage deficiency in platelets, melanosomes, and neurotransmitter vesicles

P Kantheti, X Qiao, +7 authors M Burmeister
Neuron 21:111, • 1998

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