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Curr Opin Cell Biol. 2009 Aug;21(4):552-9. doi: 10.1016/j.ceb.2009.04.014. Epub 2009 Jun 3.

AP-3-dependent trafficking and disease: the first decade.

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  • 1Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-7088, USA. edellangelica@mednet.ucla.edu

Abstract

The adaptor protein (AP)-3 complex defines a pathway for the intracellular trafficking of membrane-associated proteins in most eukaryotic cells. Ten years ago, genetic defects in AP-3 were linked to a human Mendelian disease, named Hermansky-Pudlak syndrome, characterized by abnormal biogenesis and function of lysosome-related organelles such as melanosomes and platelet dense granules. During recent years, research on this trafficking pathway has significantly expanded its horizons to include evolutionarily divergent eukaryotic models and to embrace functional genomics and proteomics approaches. These studies have brought into focus ideas about the specific roles of this pathway in protein trafficking and organelle biogenesis within the endosomal-lysosomal system.

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