| First Author | Swank RT | Year | 1998 |
| Journal | Pigment Cell Res | Volume | 11 |
| Issue | 2 | Pages | 60-80 |
| PubMed ID | 9585243 | Mgi Jnum | J:88018 |
| Mgi Id | MGI:3028889 | Doi | 10.1111/j.1600-0749.1998.tb00713.x |
| Citation | Swank RT, et al. (1998) Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res 11(2):60-80 |
| abstractText | 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, caused by at least 14 distinct mutations. Studies on the mouse mutants have defined the granule abnormalities of HPS and have shown that the disease is associated with a surprising variety of phenotypes affecting many tissues. This is an exciting time in HPS research because of the recent molecular identification of the gene causing a major form of human HPS and the expected identifications of several mouse HPS genes. Identifications of mouse HPS genes are expected to increase our understanding of intracellular vesicle trafficking, lead to discovery of new human HPS genes, and suggest diagnostic and therapeutic approaches toward the more severe clinical consequences of the disease. |
