ArticleThe Journal of investigative dermatology2007
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
Article in The Journal of investigative dermatology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 46 citations in OpenAlex.
- Heme Oxygenase-1 Differentially Controls Pigmentation in Physiological and Pathological Melanogenesis.Pigment cell & melanoma research · 2026Article
- Lysosome-related organelles orchestrate guanine crystal formation in pigment cells.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Article
- Melanosome Biogenesis in the Pigmentation of Mammalian Skin.Integrative and comparative biology · 2021Review
- The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.Traffic (Copenhagen, Denmark) · 2019Review
- Sequence-Based Mapping and Genome Editing Reveal Mutations in SticklebackG3 (Bethesda, Md.) · 2017Article
- Review
- 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
- Autophagy and human diseases.Cell research · 2014Review
- Article
- Lysosome-related organelles: unusual compartments become mainstream.Current opinion in cell biology · 2013Review
- Skin transcriptome profiles associated with coat color in sheep.BMC genomics · 2013Article
- BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles.The Journal of biological chemistry · 2012Article
- Mechanisms of protein delivery to melanosomes in pigment cells.Physiology (Bethesda, Md.) · 2012Review
- Comprehensive characterization of mesenchymal stem cells from human placenta and fetal membrane and their response to osteoactivin stimulation.Stem cells international · 2012Article
- Comparison of bone morphogenetic protein-2 and osteoactivin for mesenchymal cell differentiation: effects of bolus and continuous administration.Journal of cellular physiology · 2011Article
- Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.Pigment cell & melanoma research · 2011Article
- Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.Human molecular genetics · 2010Article
- Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.Journal of medical genetics · 2009Article
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 disorder of lysosome-related organelle biogenesis resulting in melanosome dysfunction and absent platelet dense bodies. HPS patients have oculocutaneous albinism, bruising, and bleeding. HPS-5 results from deficiency of the HPS5 protein, a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). HPS5 has an unknown function and lacks homology to known proteins. We performed ultrastructural studies of HPS-5 melanocytes revealing predominantly early-stage melanosomes with many small 3,4(OH)2-phenylalanine-positive vesicles throughout the cell body and dendrites. These findings resemble the distinct ultrastructural features of HPS-3 melanocytes; HPS3 is also a BLOC-2 component. Immunofluorescence and immunoEM studies showed decreased TYRP1 labeling in the dendrites of HPS-5 melanocytes, and the overall abundance of TYRP1 was reduced. No substantial differences were observed in the distribution or abundance of Pmel17 in HPS-5 melanocytes. In normal melanocytes, endogenous tyrosinase colocalized with Pmel17 and TYRP1 in the perinuclear area and dendritic tips; this was much reduced in HPS-5 melanocytes, particularly in the tips. We conclude that early stage melanosome formation and Pmel17 trafficking are preserved in HPS5-deficient cells. Tyrosinase and TYRP1 are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes.
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Registered trials
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