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Article

Mouse models of Hermansky Pudlak syndrome: a review.

Pigment cell research - 1 Apr 1998

Swank R T, Novak E K, McGarry M P, Rusiniak M E, Feng L

Abstract excerpt

Hermansky Pudlak Syndrome (HPS) is a recessively inherited disease affecting the contents and/or the secretion of several related subcellular organelles including melanosomes, lysosomes, and platelet dense granules. It presents with disorders of pigmentation, prolonged bleeding, and ceroid deposition, often accompanied by severe fibrotic lung disease and colitis. In the mouse, the disorder is clearly multigenic,...

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Identifiers

PMID: 9585243
DOI: 10.1111/j.1600-0749.1998.tb00713.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Research trail→

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Mouse models of Hermansky Pudlak syndrome: a review.PMID 9585243Read ↗

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.Semantic proximity Read ↗

Hermansky-Pudlak syndrome: models for intracellular vesicle formation.Semantic proximity Read ↗

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.Semantic proximity Read ↗

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.Semantic proximity Read ↗

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Semantic proximity Read ↗

Pulmonary Fibrosis in Hermansky-Pudlak SyndromeSemantic proximity Read ↗

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.Semantic proximity Read ↗

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.Semantic proximity Read ↗

Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles.Semantic proximity Read ↗

The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.Semantic proximity Read ↗

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).Semantic proximity Read ↗

The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).Semantic proximity Read ↗

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