ArticleThe Journal of investigative dermatology2005
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking.
Article in The Journal of investigative dermatology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 59 citations in OpenAlex.
- Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region.Dermatology practical & conceptual · 2025Article
- AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio).Pigment cell & melanoma research · 2022Article
- Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.Orphanet journal of rare diseases · 2022Article
- The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.Traffic (Copenhagen, Denmark) · 2019Review
- Precise therapeutic gene correction by a simple nuclease-induced double-stranded break.Nature · 2019Article
- BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers.The Journal of cell biology · 2016Article
- BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.The Journal of cell biology · 2015Article
- Melanocytic galectin-3 is associated with tyrosinase-related protein-1 and pigment biosynthesis.The Journal of investigative dermatology · 2015Article
- Article
- ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.Hematology/oncology clinics of North America · 2013Review
- Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes.Molecular biology of the cell · 2012Article
- Mechanisms of protein delivery to melanosomes in pigment cells.Physiology (Bethesda, Md.) · 2012Review
- Update on the regulation of mammalian melanocyte function and skin pigmentation.Expert review of dermatology · 2011Article
- Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico.Journal of pediatric hematology/oncology · 2010Article
- Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia.American journal of respiratory and critical care medicine · 2010Article
- Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.Human molecular genetics · 2010Article
- Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.Haematologica · 2010Article
- Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function.Molecular biology of the cell · 2009Article
- Identification of quinolines that inhibit melanogenesis by altering tyrosinase family trafficking.Molecular pharmacology · 2008Article
- Melanosomes--dark organelles enlighten endosomal membrane transport.Nature reviews. Molecular cell biology · 2007Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder in which mutations in one of several genes interrupts biogenesis of melanosomes, platelet dense bodies, and lysosomes. Affected patients have oculocutaneous albinism, a bleeding diathesis, and sometimes develop granulomatous colitis or pulmonary fibrosis. In order to assess the role of HPS genes in melanosome biogenesis, melanocytes cultured from patients with HPS subtypes 1, 2, or 3 were assessed for the localization of various melanocyte proteins. Tyrosinase, Tyrp1, and Dct/Tyrp2 were atypically and distinctly expressed in HPS-1 and HPS-3 melanocytes, whereas only tyrosinase showed an atypical distribution in HPS-2 melanocytes. The HPS1 and AP3B1 (i.e., HPS-2) gene products showed no expression in HPS-1 and HPS-2 melanocytes, respectively, whereas HPS-3 melanocytes exhibited normal expression for both proteins. In normal human melanocytes, the HPS1 protein was expressed as an approximately 80 kDa molecule with both granular and reticular intracellular profiles. In HPS-1, lysosome associated membrane protein 1 (LAMP1), and LAMP3 were localized to abnormal large granules; in HPS-2, all LAMPs exhibited a normal granular expression; and in HPS-3, LAMP1, and LAMP3 exhibited a distinct less granular and more floccular pattern. In contrast, the expressions of Rab 27, transferrin, and cKit were unaffected in all three HPS genotypes. These data demonstrate that the three initially identified subtypes of human HPS exhibit distinct defects in the trafficking of various melanocyte-specific proteins.
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Registered trials
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