机构：[1]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Center of Rare Diseases, National Center for Children's Health, Beijing, China首都医科大学附属北京儿童医院[2]MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China[3]Department of Dermatology, Tongren Hospital, Capital Medical University, Beijing, China临床科室皮肤性病科首都医科大学附属北京同仁医院首都医科大学附属同仁医院
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.
基金：
Ministry of Science and Technology of ChinaMinistry of Science and Technology, China [2019YFA080210]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [31830054, 91954104, 91854110, 9205410002, 31900496, 31900549, 31800977, 82173447]
第一作者机构：[1]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Center of Rare Diseases, National Center for Children's Health, Beijing, China[2]MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China[*1]Beijing Children’s Hospital, Capital Medical University, Beijing 100045, China.
通讯作者：
通讯机构：[1]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Center of Rare Diseases, National Center for Children's Health, Beijing, China[2]MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China[3]Department of Dermatology, Tongren Hospital, Capital Medical University, Beijing, China[*1]Beijing Children’s Hospital, Capital Medical University, Beijing 100045, China.[*2]Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
推荐引用方式(GB/T 7714)：
Li Wei,Hao Chan-Juan,Hao Zhen-Hua,et al.New insights into the pathogenesis of Hermansky-Pudlak syndrome[J].PIGMENT CELL & MELANOMA RESEARCH.2022,35(3):290-302.doi:10.1111/pcmr.13030.
APA：
Li, Wei,Hao, Chan-Juan,Hao, Zhen-Hua,Ma, Jing,Wang, Qiao-Chu...&Wei, Ai-Hua.(2022).New insights into the pathogenesis of Hermansky-Pudlak syndrome.PIGMENT CELL & MELANOMA RESEARCH,35,(3)
MLA：
Li, Wei,et al."New insights into the pathogenesis of Hermansky-Pudlak syndrome".PIGMENT CELL & MELANOMA RESEARCH 35..3(2022):290-302
