Hermansky-Pudlak syndrome 3

Common Name(s)

Hermansky-Pudlak syndrome 3

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hermansky-Pudlak syndrome 3" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hermansky-Pudlak syndrome 3" returned 15 free, full-text research articles on human participants. First 3 results:

The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα.
 

Author(s): P V Ryder, R Vistein, A Gokhale, M N Seaman, M A Puthenveedu, V Faundez

Journal: Mol. Biol. Cell. 2013 Jul;24(14):2269-84.

 

Vesicle biogenesis machinery components such as coat proteins can interact with the actin cytoskeleton for cargo sorting into multiple pathways. It is unknown, however, whether these interactions are a general requirement for the diverse endosome traffic routes. In this study, we ...

Last Updated: 12 Jul 2013

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BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
 

Author(s): Andreas Gerondopoulos, Lars Langemeyer, Jin-Rui Liang, Andrea Linford, Francis A Barr

Journal: Curr. Biol.. 2012 Nov;22(22):2135-9.

 

Hermansky-Pudlak syndrome (HPS) is a human disease characterized by partial loss of pigmentation and impaired blood clotting. These symptoms are caused by defects in the biogenesis of melanosomes and platelet dense granules, often referred to as lysosome-related organelles. Genes ...

Last Updated: 23 Nov 2012

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Defective HIV-1 particle assembly in AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2.
 

Author(s): Ling Liu, Jessica Sutton, Elvin Woodruff, Fernando Villalta, Paul Spearman, Xinhong Dong

Journal: J. Virol.. 2012 Oct;86(20):11242-53.

 

Adaptor protein complex 3 (AP-3) is a heterotetramer that is involved in signal-mediated protein sorting to endosomal-lysosomal organelles. AP-3 deficiency in humans, induced by mutations in the AP3B1 gene, which encodes the β3A subunit of the AP-3 complex, results in Hermansky-Pudlak ...

Last Updated: 21 Sep 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hermansky-Pudlak syndrome 3" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.