期刊
JOURNAL OF DERMATOLOGY
卷 40, 期 5, 页码 325-329出版社
WILEY-BLACKWELL
DOI: 10.1111/1346-8138.12025
关键词
HermanskyPudlak syndrome; hypopigmentation; lysosome-related organelle; melanosomes; protein sorting
类别
资金
- 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
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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