ArticleProceedings of the National Academy of Sciences of the United States of America1997
The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 133 citations in OpenAlex.
- Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.FEBS letters · 2025Article
- Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.Cells · 2022Review
- Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish.G3 (Bethesda, Md.) · 2022Article
- CBClinical and translational medicine · 2021Article
- Rab family of small GTPases: an updated view on their regulation and functions.The FEBS journal · 2021Review
- HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.Frontiers in immunology · 2020Article
- Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model.Scientific reports · 2019Article
- The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.Traffic (Copenhagen, Denmark) · 2019Review
- Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids.Bioscience reports · 2019Article
- Mouse germ line mutations due to retrotransposon insertions.Mobile DNA · 2019Review
- BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.Journal of genetics and genomics = Yi chuan xue bao · 2016Article
- Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Annals of the American Thoracic Society · 2016Review
- BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers.The Journal of cell biology · 2016Article
- Article
- Organelle biogenesis: en BLOC exchange for RAB32 and RAB38.Current biology : CB · 2012Article
- Mechanisms of protein delivery to melanosomes in pigment cells.Physiology (Bethesda, Md.) · 2012Review
- Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.PloS one · 2012Article
- Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome.International journal of nephrology · 2011Article
- Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.Archives of ophthalmology (Chicago, Ill. : 1960) · 2006Article
- Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome.Journal of immunology (Baltimore, Md. : 1950) · 2006Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
The recessive mutation at the pale ear (ep) locus on mouse chromosome 19 was found to be the homologue of human Hermansky-Pudlak syndrome (HPS). A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart. These genes and their predicted proteins are highly conserved at the nucleotide and amino acid levels. Sequence analysis of the mutant ep gene revealed the insertion of an intracisternal A particle element in a protein-coding 3' exon. Here we demonstrate that mice with the ep mutation exhibit abnormalities similar to human HPS patients in melanosomes and platelet-dense granules. These results establish an animal model of HPS and will facilitate biochemical and molecular analyses of the functions of this protein in the membranes of specialized intracellular organelles.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.