| ○種別 (必須): | □ | 学術論文 (審査論文)
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| ○言語 (必須): | □ | 英語
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| ○招待 (推奨): |
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| ○カテゴリ (推奨): |
| ○共著種別 (推奨): |
| ○学究種別 (推奨): | □ | 博士課程学生による研究報告
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| ○組織 (推奨): | 1. | 徳島大学.疾患酵素学研究センター (2007年4月1日〜2016年3月31日/->組織[徳島大学.先端酵素学研究所.次世代酵素学研究領域])
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| ○著者 (必須): | 1. | Yao Dengbing
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| ○学籍番号 (推奨): |
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| 2. | Yao Min
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| ○貢献度 (任意): |
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| 3. | (英) Yamaguchi Miyoko (日) (読)
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| 4. | 千田 淳司 ([徳島大学.先端酵素学研究所.基幹研究部門])
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| ○貢献度 (任意): |
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| 5. | 木戸 博 ([徳島大学.先端酵素学研究所.重点研究部門])
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| ○題名 (必須): | □ | (英) Characterization of compound missense mutation and deletion of carnitine palmitoyltransferase II in a patient with adenovirus-associated encephalopathy (日)
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| ○副題 (任意): |
| ○要約 (任意): | □ | (英) In mammals, carnitine palmitoyltransferase (CPT) system is a pivotal component of energy metabolism through mitochondrial fatty acid oxidation. The majority of patients with fatal or handicapped influenza-associated encephalopathy exhibit thermolabile compound homo/heterozygous mutations of CPT II. Compound CPT II mutations, [c.647A>G (p.Q216R)], [c.1102G>A (p.V368I)], [c.1939A>G (p.M647V)] and [c.745delG (p.G249EfsX16)], were found in a patient with adenovirus-associated encephalopathy and his family. The properties of these CPT II mutations were analyzed in COS-7 cells. CPT II mutations in the patient and his family were expressed in COS-7 cells and their molecular masses, enzyme activities, thermal instabilities and half-lives were analyzed. We identified two novel CPT II mutations in the patient, [c.647A>G (p.Q216R)] and [c.745delG (p.G249EfsX16)]. The CPT II Q216R mutation showed mild reduction of activity, thermal instability and short half-life but compound mutations with Q216R+V368I+M647V showed further enhancement of these disabilities, although mutations V368I and M647V had no such effects. CPT II mutation [c.745delG (p.G249EfsX16)] abolished enzyme activity and showed short half-life. The thermal instability and short half-life of the novel CPT II mutations, [c.647A>G (p.Q216R)] and [c.745delG (p.G249EfsX16)], could play important roles in energy crisis in the pathogenesis of virus-associated encephalopathy. (日)
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| ○キーワード (推奨): | 1. | (英) Adenosine Triphosphate (日) (読)
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| 2. | (英) Adenoviridae Infections (日) (読)
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| 3. | (英) Amino Acid Sequence (日) (読)
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| 4. | (英) Animals (日) (読)
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| 5. | (英) Base Sequence (日) (読)
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| 6. | (英) Blotting, Western (日) (読)
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| 7. | (英) COS Cells (日) (読)
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| 8. | (英) Carnitine O-Palmitoyltransferase (日) (読)
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| 9. | (英) Cercopithecus aethiops (日) (読)
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| 10. | (英) Child, Preschool (日) (読)
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| 11. | (英) Encephalitis, Viral (日) (読)
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| 12. | (英) Enzyme Stability (日) (読)
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| 13. | (英) Gene Deletion (日) (読)
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| 14. | (英) Humans (日) (読)
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| 15. | (英) Molecular Sequence Data (日) (読)
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| 16. | (英) Mutation, Missense (日) (読)
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| ○発行所 (推奨): | □ | (英) The University of Tokushima Faculty of Medicine (日) (読)
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| ○誌名 (必須): | □ | The Journal of Medical Investigation : JMI ([徳島大学.医学部])
(pISSN: 1343-1420, eISSN: 1349-6867)
| ○ISSN (任意): | □ | 1349-6867
ISSN: 1343-1420
(pISSN: 1343-1420, eISSN: 1349-6867) Title: The journal of medical investigation : JMITitle(ISO): J Med InvestSupplier: 徳島大学Publisher: University of Tokushima (NLM Catalog)
(Webcat Plus)
(医中誌Web)
(J-STAGE)
(Scopus)
(CrossRef)
(Scopus information is found. [need login]) | [継承] |
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| ○巻 (必須): | □ | 58
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| ○号 (必須): | □ | 3,4
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| ○頁 (必須): | □ | 210 218
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| ○都市 (任意): | □ | 徳島 (Tokushima/[日本国])
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| ○年月日 (必須): | □ | 西暦 2011年 8月 初日 (平成 23年 8月 初日)
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| ○URL (任意): |
| ○DOI (任意): | □ | 10.2152/jmi.58.210 (→Scopusで検索)
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| ○PMID (任意): | □ | 21921422 (→Scopusで検索)
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| ○CRID (任意): |
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| ○機関リポジトリ : | □ | 83835
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| ○評価値 (任意): |
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| ○指導教員 (推奨): |
| ○備考 (任意): | 1. | (英) Article.Affiliation: Division of Enzyme Chemistry, Institute for Enzyme Research, University of Tokushima, Tokushima, Japan. (日)
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| 2. | (英) Article.PublicationTypeList.PublicationType: Case Reports (日)
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| 3. | (英) Article.PublicationTypeList.PublicationType: Journal Article (日)
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| 4. | (英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't (日)
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