New insights into the pathogenesis of Hermansky–Pudlak syndrome

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 immunodeficie...

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Published in:Pigment cell and melanoma research 2022-05, Vol.35 (3), p.290-302
Main Authors: Li, Wei, Hao, Chan‐Juan, Hao, Zhen‐Hua, Ma, Jing, Wang, Qiao‐Chu, Yuan, Ye‐Feng, Gong, Juan‐Juan, Chen, Yuan‐Ying, Yu, Jia‐Ying, Wei, Ai‐Hua
Format: Article
Language:English
Subjects:
Albinism
Animals
biogenesis
Biosynthesis
Fibrosis
Hermanski-Pudlak Syndrome - genetics
Hermanski-Pudlak Syndrome - pathology
Hermansky–Pudlak syndrome
Homeostasis
HPS protein
HPS protein‐associated complex
Immunodeficiency
Inflammatory bowel diseases
Lung diseases
lysosome‐related organelle
Mice
Ocular albinism
Organelles
Pathogenesis
secretion
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Summary: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.
ISSN:1755-1471
1755-148X
DOI:10.1111/pcmr.13030