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Cited by 180

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The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances

Open access
Di Pietro, Santiago M., Dell'Angelica, Esteban C.·2005·Traffic

Abstract

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.

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Metadata

Authors
Di Pietro, S. M., & Dell'Angelica, E. C.
Venue
Traffic
Publisher
Wiley
Published
2005-05-21
Volume
6
Issue
7
Pages
525-533
ISSN
  • 1398-9219 (ISSN-L)
  • 1600-0854
OpenAlex
W1534969769
Cited by
180
References
1
FWCI
7.05
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances. https://app.cochat.ai/papers/10.1111/j.1600-0854.2005.00299.x
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Di Pietro, S. M., & Dell'Angelica, E. C. (2005). The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances. Traffic. https://doi.org/10.1111/j.1600-0854.2005.00299.x

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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