Recent advance in Hermansky-Pudlak syndrome
スポンサーリンク
概要
- 論文の詳細を見る
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, recessively inherited disease characterized by oculocutaneous albinism, hemorrhagic diathesis, pulmonary fibrosis and granulomatous colitis. Eight genetically distinct types of human HPS have been detected. HPS in human, mice and rats are caused by mutations in any of 18 genes, five of which encode subunits of biogenesis of lysosome-related organelles complex (BLOC)-1, three of BLOC-2, two of BLOC-3 and two of adaptor protein complex AP-3. The peculiar clinical symptom is derived from aberrant vesicle trafficking in lysosome and lysosome-related organelles of melanosomes in melanocytes, dense core granules in platelets and lamellar bodies in alveolar type II cells. The function of HPS-associated complexes and proteins are involved in the intracellular membrane trafficking from trans-Golgi network and early endosomes to late endosomes, lysosomes and lysosome-related organelles. We summarized recent advance in HPS in regard to the identification of HPS genes in human and the function of HPS-associated complexes. Further investigation in HPS-associated complexes and proteins brings more insight into the biology of intracellular membrane trafficking.
- 近畿大学の論文
著者
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OISO Naoki
Department of Dermatology, Kinki University School of Medicine
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Oiso Naoki
Department Of Dermatology Kinki University School Of Medicine
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Oiso Naoki
Department Of Dermatology Kinki University Faculty Of Medicine
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