Journal
JOURNAL OF DERMATOLOGY
Volume 40, Issue 5, Pages 325-329Publisher
WILEY-BLACKWELL
DOI: 10.1111/1346-8138.12025
Keywords
HermanskyPudlak syndrome; hypopigmentation; lysosome-related organelle; melanosomes; protein sorting
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Funding
- National Natural Science Foundation of China [31230046, 81101182, 31071252]
- Chinese Academy of Sciences [KSCX2-EW-R-05]
- State Key Laboratory of Molecular Developmental Biology, China
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HermanskyPudlak 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.
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