title: Hypopigmentation in Hermansky-Pudlak syndrome.
abstract: Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, bleeding tendency, and ceroid deposition which often leads to death in midlife. Currently, nine genes have been identified as causative for HPS in humans. Hypopigmentation is the prominent feature of HPS, attributable to the disrupted biogenesis of melanosome, a member of the lysosome-related organelle (LRO) family. Current understanding of the cargo transporting mechanisms into the melanosomes expands our knowledge of the pathogenesis of hypopigmentation in HPS patients.
authors.affiliation: State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
authors.forename: Ai-Hua
authors.initials: AH
authors.lastname: Wei
authors.forename: Xin
authors.initials: X
authors.lastname: He
authors.forename: Wei
authors.initials: W
authors.lastname: Li
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics*; D006801:Humans; D020460:Melanosomes / Q000502:physiology; D009154:Mutation