{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:10:44Z","timestamp":1761707444413},"reference-count":0,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,1,5]],"date-time":"2002-01-05T00:00:00Z","timestamp":1010188800000},"content-version":"vor","delay-in-days":704,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Research"],"published-print":{"date-parts":[[2000,2]]},"abstract":"<jats:p>Hermansky\u2013Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized principally by oculocutaneous albinism, a bleeding tendency, and a ceroid\u2010lipofuscin lysosomal storage disease. These clinical manifestations of HPS are associated with defects of multiple cytoplasmic organelles \u2013 melanosomes, platelet granules, and lysosomes \u2013 suggesting that the <jats:italic>HPS<\/jats:italic> gene product is involved in some shared feature of the biogenesis or functions of these diverse organelles. The <jats:italic>HPS<\/jats:italic> gene has been cloned, and a number of pathologic mutations of the gene have been identified. Functional studies indicate that the HPS protein is part of a high\u2010molecular weight complex involved in the biogenesis of early melanosomes. Additional disorders with similarities to HPS have been identified in man, mouse, flies, and yeast, and it is rapidly becoming clear that understanding these disorders will shed new light on the mechanisms by which cells traffic newly synthesized proteins through the cytoplasm to assemble functional organelles.<\/jats:p>","DOI":"10.1034\/j.1600-0749.2000.130104.x","type":"journal-article","created":{"date-parts":[[2003,3,12]],"date-time":"2003-03-12T16:34:39Z","timestamp":1047486879000},"page":"15-20","source":"Crossref","is-referenced-by-count":26,"title":["Hermansky\u2013Pudlak Syndrome and Pale Ear: Melanosome\u2010Making for the Millennium"],"prefix":"10.1111","volume":"13","author":[{"given":"Richard A.","family":"Spritz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,1,5]]},"container-title":["Pigment Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1600-0749.2000.130104.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1600-0749.2000.130104.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1034\/j.1600-0749.2000.130104.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,29]],"date-time":"2023-10-29T19:02:51Z","timestamp":1698606171000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1034\/j.1600-0749.2000.130104.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,2]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,2]]}},"alternative-id":["10.1034\/j.1600-0749.2000.130104.x"],"URL":"https:\/\/doi.org\/10.1034\/j.1600-0749.2000.130104.x","archive":["Portico"],"relation":{},"ISSN":["0893-5785","1600-0749"],"issn-type":[{"value":"0893-5785","type":"print"},{"value":"1600-0749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,2]]}}}