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ProteomicsInsights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model
Hermansky-Pudlak syndrome type 1 (HPS-1) is a rare, autosomal recessive disorder caused by defects in the biogenesis of lysosome-related organelles complex-3 (BLOC-3). Impaired kidney function is among its clinical manifestations. To investigate HPS-1 renal involvement, we employed 1D-gel-LC–MS/MS a...
ORGANISM(S): Homo sapiens (Human) 
2025-07-07 | PXD063765 | Pride
Proteomics Extracellular vesicles Renal pathology Hermansky-pudlak syndrome Tamm-horsfall protein 
UnknownDysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility.
Not available
S-EPMC9229912 | biostudies-literature
ProteomicsHermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity through a pathogenic lipid metabolism-mTOR circuit
Mendelian diseases that present with immune-mediated disorders can provide insights into the molecular mechanisms that drive inflammation. Hermansky-Pudlak syndrome (HPS) types 1 and 4 are caused by defective vesicle trafficking involving the BLOC-3 complex. The presence of inflammatory complication...
ORGANISM(S): Homo sapiens (Human) 
2022-11-02 | PXD024435 | Pride
Lipid metabolism Mtor Hps-1 
TranscriptomicsAnalysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1
The near-normalization of constitutive cytokine and matrix release following rescue by HPS1 transduction of HPM cells suggests that HPS-1 HuMCs may contribute to pulmonary fibrosis and constitute a target for therapeutic intervention. Microarray analysis of HPS-1 HuMCs and non-transduced HPM cells c...
ORGANISM(S): Homo sapiens 
2016-07-01 | E-GEOD-83920 | biostudies-arrayexpress
GenomicsGenome-wide expression analysis of EPCAM+ epithelial cells from 3-dimensional lung organoids harboring Hermansky-Pudlak Syndrome-associated mutations
Genome-wide expression analysis of EPCAM+ epithelial cells from 3-dimensional lung organoids harboring Hermansky-Pudlak Syndrome-associated mutations
PRJNA502562 | ENA
GenomicsDysregulated alveolar epithelial maintenance in Hermansky-Pudlak syndrome pulmonary fibrosis
Dysregulated alveolar epithelial maintenance in Hermansky-Pudlak syndrome pulmonary fibrosis
PRJNA986574 | ENA
ProteomicsDefective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.
Weibel-Palade bodies (WPBs) are endothelial secretory organelles that contain VWF, P-selectin and CD63. Release of VWF from WPBs is crucial for platelet adhesion during primary hemostasis. Endosomal trafficking of proteins like CD63 to WPBs during maturation is dependent on the AP-3 complex. Mutatio...
ORGANISM(S): Homo sapiens (Human) 
2019-01-31 | PXD011294 | Pride
Endothelial cells Weibel-palade bodies Hps2 Ap3 complex 
TranscriptomicsGenome-wide expression analysis of EPCAM+ epithelial cells from 3-dimensional lung organoids harboring Hermansky-Pudlak Syndrome-associated mutations
Introduction of Hermansky-Pudlak Syndrome-associated mutations with CRISPR/Cas9 genome editing, allows for disease modeling in 3D cultures of hPSC-derived lung organoids.
ORGANISM(S): Homo sapiens 
2019-06-25 | GSE121999 | GEO
GenomicsEmergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis
Emergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis
PRJNA1139212 | ENA
GenomicsType 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome
Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome
PRJNA1168925 | ENA
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