The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances
Open accessAbstract
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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Wurmser, A. E., Sato, T. K., & Emr, S. D. (2000) · The Journal of Cell Biology · doi:10.1083/jcb.151.3.551 · Cited by 425
Cited by
Role of Rab GTPases in Membrane Traffic and Cell Physiology
Hutagalung, A. H., & Novick, P. J. (2011) · Physiological Reviews · doi:10.1152/physrev.00059.2009 · Cited by 1,460
Peplowska, K., Markgraf, D. F., Ostrowicz, C. W., Bange, G., & Ungermann, C. (2007) · Developmental Cell · doi:10.1016/j.devcel.2007.03.006 · Cited by 309
Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes
Wasmeier, C., Romao, M., Plowright, L., Bennett, D. C., Raposo, G., & Seabra, M. C. (2006) · The Journal of Cell Biology · doi:10.1083/jcb.200606050 · Cited by 275
Bultema, J. J., Ambrosio, A. L., Burek, C. L., & Di Pietro, S. M. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.351908 · Cited by 128
Self-citationGokhale, A., Larimore, J., Werner, E., So, L., Moreno-De-Luca, A., Lese-Martin, C., Lupashin, V. V., Smith, Y., & Faundez, V. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.5640-11.2012 · Cited by 85
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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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.