Affinage

HPS1

BLOC-3 complex member HPS1 · UniProt Q92902

Length
700 aa
Mass
79.3 kDa
Annotated
2026-04-28
100 papers in source corpus 12 papers cited in narrative 13 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

HPS1 is a core subunit of BLOC-3, a biogenesis of lysosome-related organelles complex that regulates vesicular trafficking to melanosomes, platelet dense granules, and other lysosome-related organelles. HPS1 forms a stable, predominantly cytosolic ~175 kDa heterodimer with HPS4 through a divalent interaction involving its N-terminal (residues 1–249) and C-terminal (residues 506–700) regions, and HPS4 is required for HPS1 protein stability (PMID:12756248, PMID:12663659, PMID:23103514). BLOC-3 functions as a guanine nucleotide exchange factor for Rab32/38 and is required for correct trafficking of melanogenic enzymes (tyrosinase, TYRP1) from the trans-Golgi network to melanosomes, for juxtanuclear positioning of lysosomes and late endosomes, and for VAMP7 removal during maturation of large dense core vesicles in Paneth cells (PMID:11564171, PMID:12847290, PMID:33224134). Loss-of-function mutations in HPS1 cause Hermansky-Pudlak syndrome, characterized by oculocutaneous albinism and platelet storage pool deficiency, with conserved phenotypes demonstrated in mouse and medaka fish models (PMID:9759648, PMID:35944207).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1998 Medium

    Establishing that HPS1 mutations disrupt intracellular trafficking of melanocyte-specific proteins answered whether HPS1 acts at the level of organelle cargo sorting rather than melanin biosynthesis per se.

    Evidence Immunofluorescence of HPS1-mutant patient melanocytes showing aberrant localization of TYRP1 and granulophysin

    PMID:9759648

    Open questions at the time
    • Single study in patient-derived cells without rescue
    • Mechanism of mistrafficking not determined
    • No biochemical activity assigned to HPS1
  2. 2000 High

    Demonstrating that HPS1 is a soluble protein that assembles into distinct cytosolic and membrane-associated complexes—the latter associated with nascent melanosomes—established HPS1 as a trafficking factor rather than a melanosomal structural component.

    Evidence Subcellular fractionation, sedimentation velocity, and immunoelectron microscopy in melanotic and non-melanotic cells

    PMID:10655547

    Open questions at the time
    • Identity of HPS1 binding partners in the complexes was unknown
    • No functional assay linking complex to organelle biogenesis
  3. 2001 High

    Loss-of-function experiments showed HPS1 is required for correct melanosomal localization and activity of tyrosinase and TYRP1, directly linking HPS1 to melanogenic enzyme trafficking.

    Evidence Antisense knockdown in melanoma cells with orthogonal readouts (immunofluorescence, EM, tyrosinase activity in intact cells vs. lysates)

    PMID:11564171

    Open questions at the time
    • Antisense approach does not fully exclude off-target effects
    • Pathway from HPS1 to vesicle targeting not defined
  4. 2002 High

    Genetic epistasis between HPS1 (pale ear) and AP-3 (pearl) revealed that BLOC-3 and AP-3 function in largely independent pathways for melanosome, lysosome, and platelet dense granule biogenesis.

    Evidence Double mutant mouse breeding with EM, biochemical assays for serotonin and lysosomal enzymes

    PMID:11861280

    Open questions at the time
    • Molecular basis of pathway independence not determined
    • Whether other BLOCs cooperate with BLOC-3 was unclear
  5. 2003 High

    Identification of HPS4 as the obligate partner of HPS1 in the BLOC-3 complex resolved the molecular composition of BLOC-3 and showed that HPS4 loss destabilizes HPS1 protein, explaining the phenotypic equivalence of pale ear and light ear mice.

    Evidence Reciprocal co-immunoprecipitation of tagged and endogenous proteins, size exclusion chromatography, Western blotting of HPS4-deficient fibroblasts

    PMID:12663659 PMID:12756248 PMID:12847290

    Open questions at the time
    • Enzymatic activity of BLOC-3 not yet identified
    • Whether additional subunits exist was unresolved
  6. 2003 High

    BLOC-3 was shown to regulate juxtanuclear positioning of lysosomes and late endosomes, broadening its role beyond melanosome-specific trafficking to general lysosome-related organelle positioning.

    Evidence Immunofluorescence of lysosomes/late endosomes in pale ear and light ear fibroblasts

    PMID:12847290

    Open questions at the time
    • Mechanism of organelle positioning (motor proteins, cytoskeletal interactions) not established
  7. 2005 Medium

    The L668P missense mutation demonstrated that the C-terminal region of HPS1 is essential for BLOC-3 assembly, beginning to map the interaction architecture.

    Evidence Transfection of L668P variant into Hps1-mutant melanocytes with assessment of complex formation

    PMID:16185271

    Open questions at the time
    • Single mutation tested; broader structure-function mapping needed
    • No structural data for the interaction interface
  8. 2012 Medium

    Systematic domain mapping revealed a divalent HPS1–HPS4 interaction mediated by two HPS1 regions (N-terminal 1–249 and C-terminal 506–700), providing the first interaction architecture of BLOC-3.

    Evidence Deletion mapping and co-immunoprecipitation of truncated constructs

    PMID:23103514

    Open questions at the time
    • No high-resolution structural data
    • Contribution of each binding site to in vivo function not tested
    • Rab32/38 GEF domain boundaries not mapped
  9. 2020 Medium

    Demonstrating that BLOC-3/HPS1 regulates VAMP7 removal from maturing Paneth cell LDCVs and controls regulated lysozyme secretion extended the functional repertoire of BLOC-3 to secretory granule maturation and intestinal innate immunity.

    Evidence EM, immunofluorescence, secretion assays, and microbiota sequencing in pale ear mouse Paneth cells

    PMID:33224134

    Open questions at the time
    • Single study; independent replication needed
    • Whether Rab32/38 GEF activity directly mediates VAMP7 removal not shown
    • Molecular link between BLOC-3 and SNARE sorting machinery undefined
  10. 2022 Medium

    Conservation of HPS1 function in melanin production and blood coagulation in medaka fish established that the BLOC-3 pathway for lysosome-related organelle biogenesis is ancestral across vertebrates.

    Evidence Positional cloning and phenotypic analysis of hps1 mutant medaka

    PMID:35944207

    Open questions at the time
    • Biochemical confirmation of BLOC-3 complex in fish not performed
    • Whether fish HPS1 also acts as Rab32/38 GEF not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key open questions include the structural basis of the BLOC-3 heterodimer and its Rab32/38 GEF catalytic mechanism, how BLOC-3 is recruited to specific organelle membranes, and the molecular pathway by which BLOC-3 controls VAMP7 removal during vesicle maturation.
  • No crystal or cryo-EM structure of BLOC-3
  • Membrane recruitment mechanism unknown
  • Direct GEF-SNARE regulatory link not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3
Localization
GO:0005829 cytosol 2 GO:0005764 lysosome 1 GO:0031410 cytoplasmic vesicle 1
Pathway
R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-9609507 Protein localization 3 R-HSA-5653656 Vesicle-mediated transport 2
Partners
HPS4RAB32RAB38
Complex memberships
BLOC-3

Evidence

Reading pass · 13 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2003 HPS1 and HPS4 proteins form a stable protein complex termed BLOC-3 (biogenesis of lysosome-related organelles complex 3), which is predominantly cytosolic with a small membrane-associated fraction, and has a molecular mass of ~175 kDa by size exclusion chromatography and sedimentation velocity analysis. Co-immunoprecipitation of epitope-tagged and endogenous proteins, size exclusion chromatography, sedimentation velocity analysis The Journal of biological chemistry High 12663659 12756248 12847290
2003 HPS4 protein is necessary for the stabilization of HPS1 protein; cells deficient in HPS4 (light ear mice) also lack HPS1 protein, indicating HPS4 stabilizes HPS1 within the BLOC-3 complex. Western blotting of HPS4-deficient (light ear) mouse fibroblasts showing absence of HPS1 protein; co-immunoprecipitation The Journal of biological chemistry High 12663659 12756248
2003 Fibroblasts deficient in HPS1 (pale ear) or HPS4 (light ear) display abnormal localization of lysosomes and late endosomes, which are less concentrated at the juxtanuclear region compared to control cells, indicating BLOC-3 regulates intracellular localization of these organelles. Immunofluorescence microscopy of mutant fibroblasts from pale ear (HPS1-deficient) and light ear (HPS4-deficient) mice Proceedings of the National Academy of Sciences of the United States of America High 12847290
2003 The coat-color phenotype of mice doubly homozygous for HPS1 (BLOC-3 subunit) and pallidin (BLOC-1 subunit) mutations was indistinguishable from BLOC-1 single mutants, placing BLOC-3 in a BLOC-1-dependent pathway for melanosome biogenesis by genetic epistasis. Genetic epistasis via double mutant mouse breeding and coat color phenotypic analysis Proceedings of the National Academy of Sciences of the United States of America Medium 12847290
2000 The HPS1 protein is a non-glycosylated, non-membrane (soluble) protein that partitions between an ~200 kDa cytosolic complex (in non-melanotic cells) and a >500 kDa membrane-associated complex (in melanotic cells), with the larger complex associated with tubulovesicular structures, small non-coated vesicles, and nascent/early-stage melanosomes. Subcellular fractionation, sedimentation velocity, immunofluorescence, and immunoelectron microscopy Human molecular genetics High 10655547
2001 Loss of HPS1 protein expression (via antisense transfection in melanoma cells) causes mislocalization of tyrosinase and tyrosinase-related protein 1 (TYRP1) to large granular complexes rather than melanosomes, resulting in decreased tyrosinase activity in intact cells but not in cell lysates, demonstrating HPS1 is required for correct trafficking of melanogenic enzymes to melanosomes. Antisense cDNA transfection, Western blotting, immunofluorescence, electron microscopy, tyrosinase activity assay in intact cells vs. lysates The Journal of investigative dermatology High 11564171
2005 The HPS1 missense mutation L668P produces an HPS1 protein that is unable to assemble into BLOC-3, demonstrating that the C-terminal region of HPS1 is required for BLOC-3 complex formation. Transfection of L668P variant into Hps1-mutant (melan-ep) mouse melanocytes and assessment of BLOC-3 assembly The Journal of investigative dermatology Medium 16185271
2012 A divalent (two-site) interaction between HPS1 and HPS4 is required for BLOC-3 formation: two regions of HPS1 (residues 1–249 and 506–700) bind HPS4, and the N-termini of HPS1 and HPS4 interact with each other, while HPS4 residues 340–528 interact with both the N- and C-termini of HPS1. Deletion mapping and co-immunoprecipitation of truncated/mutant HPS1 and HPS4 constructs Biochimica et biophysica acta Medium 23103514
2002 HPS1 (pale ear) and HPS2/AP-3 (pearl) genes function largely independently to affect melanosome, lysosome, and platelet dense granule production; double mutant mice show synergistically more severe hypopigmentation, lysosomal enzyme dysregulation, and serotonin deficiency in platelet dense granules, and increased lysosomal enzyme levels in lung. Double mutant mouse generation by breeding, morphological analysis of organelles by electron microscopy, biochemical assays for serotonin and lysosomal enzymes Blood High 11861280
2020 HPS1 (as a BLOC-3 subunit acting as a guanine nucleotide exchange factor for Rab32/38) regulates the removal of VAMP7 from maturing large dense core vesicles (LDCVs) in Paneth cells; loss of HPS1 in pale ear mice results in increased number and enlarged size of LDCVs, impaired regulated secretion of lysozyme, and altered intestinal microbiota composition. Analysis of HPS1-deficient (pale ear) mouse Paneth cells by electron microscopy, immunofluorescence, secretion assays, and microbiota sequencing Frontiers in immunology Medium 33224134
2006 HPS1 (pale ear) deficiency in mice causes delayed onset of interfollicular epidermal melanocyte tyrosinase activity, decreased numbers of epidermal and dermal melanocytes, and severe melanosome immaturity in tail skin, but not in dorsal back follicular melanocytes, revealing a developmental role for HPS1 in determining interfollicular epidermal and dermal melanocyte function distinct from its role in melanosome biogenesis. Comparative histological and immunofluorescence analysis of melanocytes and melanosomes in pale ear (ep) mice vs. controls in different skin compartments The Journal of investigative dermatology Medium 17068483
2022 hps1 has an evolutionarily conserved role in melanin production and blood coagulation in medaka fish; hps1 mutant medaka show specific absence of melanophore pigmentation and reduced blood coagulation, confirming that hps1 regulates both melanosome biogenesis and platelet/thrombocyte dense granule function across vertebrates. Positional cloning identifying hps1 as the responsible gene in albino medaka; phenotypic analysis of melanophore pigmentation and blood coagulation in hps1 mutants G3 (Bethesda, Md.) Medium 35944207
1998 In HPS patient melanocytes with confirmed HPS1 mutations, tyrosinase-related protein-1 and granulophysin show an aberrant large granular pattern of expression rather than normal melanosomal localization, supporting a role for HPS1 in trafficking of melanocyte-specific proteins from the trans-Golgi network to premelanosomes. Immunofluorescence microscopy of primary melanocytes from HPS patients with confirmed HPS1 mutations Laboratory investigation; a journal of technical methods and pathology Medium 9759648

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2003 Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nature genetics 352 12923531
2004 Pathogenesis of hemophagocytic syndrome (HPS). Autoimmunity reviews 150 15003190
2000 Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 132 10631210
1998 Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. American journal of human genetics 130 9497254
2003 Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proceedings of the National Academy of Sciences of the United States of America 107 12847290
2003 Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Human genetics 106 12664304
2003 BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. The Journal of biological chemistry 101 12756248
2004 ET-1 and TNF-alpha in HPS: analysis in prehepatic portal hypertension and biliary and nonbiliary cirrhosis in rats. American journal of physiology. Gastrointestinal and liver physiology 90 14715521
2003 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. The Journal of biological chemistry 87 12663659
2012 Enhancement of cypermethrin degradation by a coculture of Bacillus cereus ZH-3 and Streptomyces aureus HP-S-01. Bioresource technology 71 22326328
1999 Allogeneic hematopoietic stem cell transplantation for patients with hemophagocytic syndrome (HPS) in Japan. Bone marrow transplantation 55 10217187
2014 A hantavirus pulmonary syndrome (HPS) DNA vaccine delivered using a spring-powered jet injector elicits a potent neutralizing antibody response in rabbits and nonhuman primates. Current gene therapy 53 24867065
2002 The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood 51 11861280
2000 The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. Human molecular genetics 51 10655547
1998 Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking. Laboratory investigation; a journal of technical methods and pathology 49 9759648
1990 Hermansky-Pudlak syndrome (HPS). An epidemiologic study. Ophthalmic paediatrics and genetics 49 2280982
2021 High-power screening (HPS) empowered by DNA-encoded libraries. Trends in pharmacological sciences 47 34782164
2013 A novel Sin Nombre virus DNA vaccine and its inclusion in a candidate pan-hantavirus vaccine against hantavirus pulmonary syndrome (HPS) and hemorrhagic fever with renal syndrome (HFRS). Vaccine 47 23892100
2005 High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. The Journal of investigative dermatology 44 16185271
2012 DNA vaccine-generated duck polyclonal antibodies as a postexposure prophylactic to prevent hantavirus pulmonary syndrome (HPS). PloS one 43 22558299
1997 Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. The Journal of investigative dermatology 43 9182823
2017 Recombinant Botulinum Neurotoxin Hc Subunit (BoNT Hc) and Catalytically Inactive Clostridium botulinum Holoproteins (ciBoNT HPs) as Vaccine Candidates for the Prevention of Botulism. Toxins 37 28869522
1999 Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Archives of dermatology 36 10411151
2012 A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). Biochimica et biophysica acta 33 23103514
2005 Formaldehyde activating enzyme (Fae) and hexulose-6-phosphate synthase (Hps) in Methanosarcina barkeri: a possible function in ribose-5-phosphate biosynthesis. Archives of microbiology 28 16075199
2014 Alveolar type II epithelial cell dysfunction in rat experimental hepatopulmonary syndrome (HPS). PloS one 27 25419825
1996 Histopathology of Peromyscus leucopus naturally infected with pathogenic NY-1 hantaviruses: pathologic markers of HPS viral infection in mice. Laboratory investigation; a journal of technical methods and pathology 27 8600313
2016 Effect of film multi-scale structure on the water vapor permeability in hydroxypropyl starch (HPS)/Na-MMT nanocomposites. Carbohydrate polymers 25 27577909
2000 Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Ophthalmology 25 10768343
1997 Study of the in vivo and in vitro cardiovascular effects of a hydralazine-like vasodilator agent (HPS-10) in normotensive rats. British journal of pharmacology 25 9283696
2017 Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Molecular genetics and metabolism 24 28259707
2014 Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant. Hamostaseologie 24 25117010
2000 Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. The British journal of dermatology 21 10971344
2006 Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development. The Journal of investigative dermatology 19 17068483
2020 Chemical synthesis and immunological evaluation of entirely carbohydrate conjugate Globo H-PS A1. Chemical science 18 34123241
2013 Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) with hemophagocytosis (HPS): successful treatment using high-dose chemotherapy (BFM-NHL & ALL-90) and autologous peripheral blood stem cell transplantation. Journal of clinical and experimental hematopathology : JCEH 18 23995110
2012 The Role of the Endothelium in HPS Pathogenesis and Potential Therapeutic Approaches. Advances in virology 18 22811711
2001 Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA. The Journal of investigative dermatology 18 11564171
2011 The total synthesis of a ganglioside Hp-s1 analogue possessing neuritogenic activity by chemoselective activation glycosylation. Organic & biomolecular chemistry 17 22179062
2006 Gene amplification of the Hps locus in Glycine max. BMC plant biology 17 16536872
2003 Rabbit model for human EBV-associated hemophagocytic syndrome (HPS): sequential autopsy analysis and characterization of IL-2-dependent cell lines established from herpesvirus papio-induced fatal rabbit lymphoproliferative diseases with HPS. The American journal of pathology 17 12707056
2010 Overexpression of an HPS/PHI fusion enzyme from Mycobacterium gastri in chloroplasts of geranium enhances its ability to assimilate and phytoremediate formaldehyde. Biotechnology letters 16 20549541
2019 In Vitro Characterization of Hypoxia Preconditioned Serum (HPS)-Fibrin Hydrogels: Basis for an Injectable Biomimetic Tissue Regeneration Therapy. Journal of functional biomaterials 15 31086048
2021 Recombinant Human HPS Protects Mice and Nonhuman Primates from Acute Liver Injury. International journal of molecular sciences 14 34884691
2011 Novel mutations in the HPS1 gene among Puerto Rican patients. Clinical genetics 14 20662851
2017 Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. Pigment cell & melanoma research 13 28640947
2007 Interaction of giant extracellular Glossoscolex paulistus hemoglobin (HbGp) with zwitterionic surfactant N-hexadecyl-N,N-dimethyl-3-ammonio-1-propanesulfonate (HPS): effects of oligomeric dissociation. Colloids and surfaces. B, Biointerfaces 13 17825537
2020 Hp-s1 Ganglioside Suppresses Proinflammatory Responses by Inhibiting MyD88-Dependent NF-κB and JNK/p38 MAPK Pathways in Lipopolysaccharide-Stimulated Microglial Cells. Marine drugs 12 33003399
2018 Ganglioside Hp-s1 Analogue Inhibits Amyloidogenic Toxicity in Alzheimer's Disease Model Cells. ACS chemical neuroscience 12 30346715
2014 Inhibiting effect of Radix Hedysari Polysaccharide (HPS) on endotoxin-induced uveitis in rats. International immunopharmacology 12 24867794
2006 Comparison of the COBAS TAQMAN HIV-1 HPS with VERSANT HIV-1 RNA 3.0 assay (bDNA) for plasma RNA quantitation in different HIV-1 subtypes. Journal of virological methods 11 16675034
1996 Hantavirus S RNA sequence from a fatal case of HPS in New York. Journal of medical virology 11 8890033
2022 Hypoxia Preconditioned Serum (HPS)-Hydrogel Can Accelerate Dermal Wound Healing in Mice-An In Vivo Pilot Study. Biomedicines 10 35052855
2022 Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7). Frontiers in pharmacology 10 35126127
2020 HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells. Frontiers in immunology 10 33224134
2014 Expression of Caenorhabditis elegans-expressed Trans-HPS, partial aminopeptidase H11 from Haemonchus contortus. Experimental parasitology 10 25128369
2019 Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. BMC pulmonary medicine 9 31619213
2003 Therapeutic trials for a rabbit model of EBV-associated Hemophagocytic Syndrome (HPS): effects of vidarabine or CHOP, and development of Herpesvirus papio (HVP)-negative lymphomas surrounded by HVP-infected lymphoproliferative disease. Histology and histopathology 9 12973684
1999 Hantavirus pulmonary syndrome (HPS) in Guariba, SP, Brazil. Report of 2 cases. Revista do Instituto de Medicina Tropical de Sao Paulo 9 10413962
2023 In Vitro Comparison of Lymphangiogenic Potential of Hypoxia Preconditioned Serum (HPS) and Platelet-Rich Plasma (PRP). International journal of molecular sciences 8 36768283
2022 Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) with probable mesentery involvement with associated hemophagocytic syndrome (HPS) - how to treat it? The Journal of dermatological treatment 8 32924664
2022 HPS protects the liver against steatosis, cell death, inflammation, and fibrosis in mice with steatohepatitis. The FEBS journal 8 35285180
2017 The ET-1-mediated carbonylation and degradation of ANXA1 induce inflammatory phenotype and proliferation of pulmonary artery smooth muscle cells in HPS. PloS one 8 28414743
2017 Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. Platelets 8 29090612
2014 Paxillin suppresses the proliferation of HPS rat serum treated PASMCs by up-regulating the expression of cytoskeletal proteins. Molecular bioSystems 8 24457422
2014 2DLC-UV/MS assay for the simultaneous quantification of intact soybean allergens Gly m 4 and hydrophobic protein from soybean (HPS). Journal of agricultural and food chemistry 8 24837073
2022 Hypoxia Preconditioned Serum (HPS) Promotes Osteoblast Proliferation, Migration and Matrix Deposition. Biomedicines 7 35884936
2014 The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene. Experimental eye research 7 25160823
2010 Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). Klinische Padiatrie 7 20514622
2002 Effect of a zwitterionic surfactant (HPS) on the conformation and hemolytic activity of St I and St II, two isotoxins purified from Stichodactyla helianthus. Journal of protein chemistry 7 12492150
2019 Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility. Reproduction, fertility, and development 6 30786955
2010 Treatment relapsed subcutaneous panniculitis-like T-cell lymphoma together HPS by Cyclosporin A. Hematology reports 6 22184522
1995 Secondary structure in solution of the hydrophobic protein of soybean (HPS) as revealed by 1H NMR. Journal of biomolecular structure & dynamics 6 7626236
2023 Hypoxia Preconditioned Serum (HPS) Promotes Proliferation and Chondrogenic Phenotype of Chondrocytes In Vitro. International journal of molecular sciences 5 37445617
2022 Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families. Genes 5 35328057
2018 Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. Thorax 5 29941477
2016 Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). Stem cell research 5 27345974
2004 Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency. Haematologica 5 15020272
2000 Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection. Human genetics 5 10798370
1998 rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping. Mammalian genome : official journal of the International Mammalian Genome Society 5 9434937
2023 Unveiling of a puzzling dual ionic migration in lead- and iodide-deficient halide perovskites (d-HPs) and its impact on solar cell J-V curve hysteresis. Exploration (Beijing, China) 4 38854492
2019 Cyclooxygenase-2 regulates HPS patient serum induced-directional collective HPMVEC migration via PKC/Rac signaling pathway. Gene 4 30660713
1988 Enhanced thymidine uptake causes the lowered thymidine requirement of D. discoideum auxotroph HPS 401. Experimental cell research 4 3169146
2021 Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6. European journal of medical genetics 3 33878481
2021 Investigation of morphological changes of HPS membrane caused by cecropin B through scanning electron microscopy and atomic force microscopy. Journal of veterinary science 3 34423597
2019 Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3. Platelets 3 31880485
2018 Synthesis and Bioassay of Neurogenically Potent Gangliosides DSG-A, Hp-s1 and Their Analogues. ACS chemical neuroscience 3 29558805
2022 Expression Analysis of Outer Membrane Protein HPS_06257 in Different Strains of Glaesserella parasuis and Its Potential Role in Protective Immune Response against HPS_06257-Expressing Strains via Antibody-Dependent Phagocytosis. Veterinary sciences 2 35878359
2020 The Third Annual Thomas S. Tenforde Topical Lecture HPS Ask the Experts: The Most Intriguing Questions and Answers. Health physics 2 32118679
2017 Genetic variants and phylogenetic analysis of Haemophilus parasuis (HPS) OMPP2 detected in Sichuan, China from 2013 to 2015. The Journal of veterinary medical science 2 28824043
2015 Defective platelet autocrine signaling in HPS. Blood 2 25745182
2015 Annexin A2 inhibits the migration of PASMCs stimulated with HPS rat serum by down-regulating the expression of paxillin. Biochemical and biophysical research communications 2 26616057
2025 A novel approach for detecting Salmonella enterica strains frequently attributed to human illness-development and validation of the highly pathogenic Salmonella (HPS) multiplex PCR assay. Frontiers in microbiology 1 39845055
2024 A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9). BMC genomics 1 39187771
2024 Generation and application of novel hES cell reporter lines for the differentiation and maturation of hPS cell-derived islet-like clusters. Scientific reports 1 39191834
2022 Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish. G3 (Bethesda, Md.) 1 35944207
2022 Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families. Iranian journal of public health 1 36743378
2012 [Physiological differences between HPS/PHI over-expressing transgenic and wild-type geraniums under formaldehyde stress revealed by FTIR analysis]. Guang pu xue yu guang pu fen xi = Guang pu 1 22827053
2000 Isolation, partial length sequence and expression of steroid inducible hps 70 gene from Rhizopus nigricans. Pflugers Archiv : European journal of physiology 1 10653154
2000 Isolation, partial length sequence and expression of steroid inducible hps 70 gene from Rhizopus nigricans. Pflugers Archiv : European journal of physiology 1 28176085