期刊
PIGMENT CELL & MELANOMA RESEARCH
卷 35, 期 3, 页码 290-302出版社
WILEY
DOI: 10.1111/pcmr.13030
关键词
biogenesis; Hermansky-Pudlak syndrome; HPS protein-associated complex; lysosome-related organelle; secretion
资金
- Ministry of Science and Technology of China [2019YFA080210]
- National Natural Science Foundation of China [31830054, 91954104, 91854110, 9205410002, 31900496, 31900549, 31800977, 82173447]
Hermansky-Pudlak syndrome is a rare genetic disorder characterized by defects in multiple tissue-specific lysosome-related organelles. Current research on the underlying mechanisms of HPS focuses on the defective biogenesis of these organelles, and further investigation will help to better understand its pathogenesis and develop precise interventions.
Hermansky-Pudlak syndrome (HPS) is characterized by defects of multiple tissue-specific lysosome-related organelles (LROs), typically manifesting with oculocutaneous albinism or ocular albinism, bleeding tendency, and in some cases with pulmonary fibrosis, inflammatory bowel disease or immunodeficiency, neuropsychological disorders. Eleven HPS subtypes in humans and at least 15 subtypes in mice have been molecularly identified. Current understanding of the underlying mechanisms of HPS is focusing on the defective biogenesis of LROs. Compelling evidences have shown that HPS protein-associated complexes (HPACs) function in cargo transport, cargo recycling, and cargo removal to maintain LRO homeostasis. Further investigation on the molecular and cellular mechanism of LRO biogenesis and secretion will be helpful for better understanding of its pathogenesis and for the precise intervention of HPS.
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