Hermansky-Pudlak syndrome 4

Common Name(s)

Hermansky-Pudlak syndrome 4

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 4" 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 4" returned 3 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 II╬▒.
 

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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Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells.
 

Author(s): Gloria Salazar, Stephanie Zlatic, Branch Craige, Andrew A Peden, Jan Pohl, Victor Faundez

Journal: J. Biol. Chem.. 2009 Jan;284(3):1790-802.

 

The Hermansky-Pudlak syndrome is a disorder affecting endosome sorting. Disease is triggered by defects in any of 15 mouse gene products, which are part of five distinct cytosolic molecular complexes: AP-3, homotypic fusion and vacuole protein sorting, and BLOC-1, -2, and -3. To identify ...

Last Updated: 12 Jan 2009

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The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles.
 

Author(s): Pei-Wen Chiang, Naoki Oiso, Rashi Gautam, Tamio Suzuki, Richard T Swank, Richard A Spritz

Journal: J. Biol. Chem.. 2003 May;278(22):20332-7.

 

Hermansky-Pudlak syndrome (HPS) is a genetic disease of lysosome, melanosome, and granule biogenesis. Mutations of six different loci have been associated with HPS in humans, the most frequent of which are mutations of the HPS1 and HPS4 genes. Here, we show that the HPS1 and HPS4 ...

Last Updated: 26 May 2003

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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 4" 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

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