The cell biology of Hermansky-Pudiak syndrome: Recent advances

被引:138
作者
Di Pietro, SM [1 ]
Dell'Angelica, EC [1 ]
机构
[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
关键词
AP-3; BLOC; HOPS; lysosome; melanosome; membrane fusion; organelle biogenesis; platelet dense granule; protein trafficking; schizophrenia;
D O I
10.1111/j.1600-0854.2005.00299.x
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding. These manifestations arise from defects in the biogenesis of lysosome-related organelles, including melanosomes and platelet dense granules. Most genes associated with HPS in humans and rodent models of the disease encode components of multisubunit protein complexes that are expressed ubiquitously and play roles in intracellular protein trafficking and/or organelle distribution. A small GTPase of the Rab family, Rab38, is also implicated in the pathogenesis of the disease. This article reviews recent progress toward elucidating the cellular functions of these proteins.
引用
收藏
页码:525 / 533
页数:9
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