Traffic. 2005 Jul;6(7):525-33.

The cell biology of Hermansky-Pudlak syndrome: recent advances.

Source

Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.

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.

PMID:: 15941404; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Review

MeSH Terms

Substances

Proteins

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Related citations

Review The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. [Semin Cell Dev Biol. 2002]
Review The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome.
Starcevic M, Nazarian R, Dell'Angelica EC. Semin Cell Dev Biol. 2002 Aug; 13(4):271-8.
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. [Traffic. 2004]
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC. Traffic. 2004 Apr; 5(4):276-83.
Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome. [Ann N Y Acad Sci. 2004]
Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome.
Bonifacino JS. Ann N Y Acad Sci. 2004 Dec; 1038:103-14.
Review Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. [Pigment Cell Res. 2006]
Review Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML. Pigment Cell Res. 2006 Feb; 19(1):19-42.
Review The building BLOC(k)s of lysosomes and related organelles. [Curr Opin Cell Biol. 2004]
Review The building BLOC(k)s of lysosomes and related organelles.
Dell'Angelica EC. Curr Opin Cell Biol. 2004 Aug; 16(4):458-64.

See reviews... See all...

Cited by 33 PubMed Central articles

Metazoan cell biology of the HOPS tethering complex. [Cell Logist. 2011]
Metazoan cell biology of the HOPS tethering complex.
Zlatic SA, Tornieri K, L'hernault SW, Faundez V. Cell Logist. 2011 May; 1(3):111-117.
Cargo sorting to lysosome-related organelles regulates siRNA-mediated gene silencing. [J Cell Biol. 2011]
Cargo sorting to lysosome-related organelles regulates siRNA-mediated gene silencing.
Harris DA, Kim K, Nakahara K, Vásquez-Doorman C, Carthew RW. J Cell Biol. 2011 Jul 11; 194(1):77-87.
Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells. [Mol Biol Cell. 2011]
Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells.
Zlatic SA, Tornieri K, L'Hernault SW, Faundez V. Mol Biol Cell. 2011 May 15; 22(10):1699-715. Epub 2011 Mar 16.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

The cell biology of Hermansky-Pudlak syndrome: recent advances.
The cell biology of Hermansky-Pudlak syndrome: recent advances.
Traffic. 2005 Jul ;6(7):525-33.

PubMed
Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduc...
Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
J Biol Chem. 2004 Jul 2 ;279(27):28393-401. Epub 2004 Apr 21 .

PubMed
The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, in...
The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth.
Mol Psychiatry. 2010 Feb ;15(2):115, 204-15. Epub 2009 Jun 23 .

PubMed
AP-3-dependent trafficking and disease: the first decade.
AP-3-dependent trafficking and disease: the first decade.
Curr Opin Cell Biol. 2009 Aug ;21(4):552-9. Epub 2009 Jun 3 .

PubMed
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudla...
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.
Mol Genet Metab. 2008 Feb ;93(2):134-44. Epub 2007 Oct 22 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Display Settings:

Send to: