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There are eight human HPS subtypes, characterized by oculocutaneous albinism and platelet storage disease; prolonged bleeding, congenital neutropenia, pulmonary fibrosis, and granulomatous colitis can also occur. HPS is caused primarily by defects in intracellular protein trafficking that result in the dysfunction of intracellular organelles known as lysosome\u2010related organelles. HPS gene products are all ubiquitously expressed and all associate in various multi\u2010protein complexes, yet HPS has cell type\u2010specific disease expression. Impairment of specialized secretory cells such as melanocytes, platelets, lung alveolar type II epithelial cells and cytotoxic T cells are observed in HPS. This review summarizes recent molecular, biochemical and cell biological analyses together with clinical studies that have led to the correlation of molecular pathology with clinical manifestations and led to insights into such diverse disease processes such as albinism, fibrosis, hemorrhage, and congenital neutropenia.<\/jats:p>","DOI":"10.1111\/j.1600-0749.2005.00289.x","type":"journal-article","created":{"date-parts":[[2006,1,18]],"date-time":"2006-01-18T07:47:44Z","timestamp":1137570464000},"page":"19-42","source":"Crossref","is-referenced-by-count":319,"title":["Hermansky\u2013Pudlak syndrome: a disease of protein trafficking and organelle function"],"prefix":"10.1111","volume":"19","author":[{"given":"Maria L.","family":"Wei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,1,18]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.17.10317"},{"key":"e_1_2_12_3_1","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s00439-003-0933-5","article-title":"Hermansky\u2013Pudlak syndrome type 4 (HPS\u20104): clinical and molecular characteristics","volume":"113","author":"Anderson P.D.","year":"2003","journal-title":"Hum. 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