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Recent advance in Hermansky-Pudlak syndrome
https://kindai.repo.nii.ac.jp/records/2002742
https://kindai.repo.nii.ac.jp/records/200274232ac1c43-9ce1-49d1-a4d6-068bc4ee1aed
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
AA0050842X-20070600-0009.pdf (845.6 KB)
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| アイテムタイプ | 紀要論文 / departmental bulletin paper(1) | |||||||
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| 公開日 | 2025-04-16 | |||||||
| タイトル | ||||||||
| タイトル | Recent advance in Hermansky-Pudlak syndrome | |||||||
| 言語 | en | |||||||
| 作成者 |
Oiso, Naoki
× Oiso, Naoki
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| 言語 | ||||||||
| 言語 | eng | |||||||
| キーワード | ||||||||
| 主題 | Hermansky-Pudlak syndrome, biojenesis of lysosome-related organelles complex-1,-2,-3, adaptor protein complex-3 | |||||||
| 内容記述 | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | 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. | |||||||
| 言語 | en | |||||||
| 出版者 | ||||||||
| 出版者 | The Kinki University Medical Association | |||||||
| 言語 | en | |||||||
| 資源タイプ | ||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||
| 資源タイプ | departmental bulletin paper | |||||||
| 出版タイプ | ||||||||
| 出版タイプ | AM | |||||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||||
| 収録物識別子 | ||||||||
| 収録物識別子タイプ | PISSN | |||||||
| 収録物識別子 | 03866092 | |||||||
| 開始ページ | ||||||||
| 開始ページ | 9 | |||||||
| 終了ページ | ||||||||
| 終了ページ | 17 | |||||||
| 書誌情報 |
en : ACTA MEDICA KINKI UNIVERSITY 巻 32, 号 1, p. 9-17, 発行日 2007-06 |
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