| First Author | Kantheti P | Year | 1998 |
| Journal | Neuron | Volume | 21 |
| Issue | 1 | Pages | 111-22 |
| PubMed ID | 9697856 | Mgi Jnum | J:50662 |
| Mgi Id | MGI:1316494 | Doi | 10.1016/s0896-6273(00)80519-x |
| Citation | Kantheti P, et al. (1998) Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 21(1):111-22 |
| abstractText | The mouse mutant mocha, a model for the Hermansky-Pudlak storage pool deficiency syndrome, is characterized by defective platelets, coat and eye color dilution, lysosomal abnormalities, inner ear degeneration, and neurological deficits. Here, we show that mocha is a null allele of the delta subunit of the adaptor-like protein complex AP-3, which is associated with coated vesicles budding from the trans-Golgi network, and that AP-3 is missing in mocha tissues. In mocha brain, the ZnT-3 transporter is reduced, resulting in a lack of zinc-associated Timm historeactivity in hippocampal mossy fibers. Our results demonstrate that the AP-3 complex is responsible for cargo selection to lysosome-related organelles such as melanosomes and platelet dense granules as well as to neurotransmitter vesicles. |
