『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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EID=166664EID:166664, Map:0, LastModified:2012年9月4日(火) 14:49:49, Operator:[大家 隆弘], Avail:TRUE, Censor:0, Owner:[山﨑 尚志], Read:継承, Write:継承, Delete:継承.
種別 (必須): 学術論文 (審査論文) [継承]
言語 (必須): 英語 [継承]
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カテゴリ (推奨): 研究 [継承]
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学究種別 (推奨):
組織 (推奨): 1.徳島大学 [継承]
著者 (必須): 1.山﨑 尚志 ([徳島大学.大学院医歯薬学研究部.薬学域.薬科学部門.生命薬学系.薬物治療学])
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2.松尾 泰佑
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3. (英) Kurata Miho (日) (読)
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4. (英) Suzuki Makiko (日) (読)
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5. (英) Fujiwaki Takehisa (日) (読)
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6. (英) Yamaguchi Seiji (日) (読)
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7.寺田 弘 ([東京理科大学])
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8.篠原 康雄 ([徳島大学.先端酵素学研究所.基幹研究部門])
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学籍番号 (推奨):
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題名 (必須): (英) Substitutions of Three Amino Acids in Human Heart/Muscle Type Carnitine Palmitoyltransferase I Caused by Single Nucleotide Polymorphisms  (日)    [継承]
副題 (任意):
要約 (任意): (英) Heart/muscle type carnitine palmitoyltransferase I (M-CPTI) catalyzes the rate-limiting step of mitochondrial long-chain fatty acid (LCFA) oxidation in muscle and adipose tissue. Three replacements of nucleotides resulting in missense mutations of I66V, S427C, and E531K were observed in the M-CPTI gene of patients showing abnormal fatty acid metabolism. These nucleotide replacements were found to be common single nucleotide polymorphisms (SNPs) of this gene and not specific to patients. The question of whether these missense mutations caused by SNPs alter the functional properties of M-CPTI remains unanswered. Thus, we examined whether these missense mutations are associated with any changes in the enzymatic properties of M-CPTI. None of these mutations was found to cause remarkable alteration of its enzymatic properties. Based on the comparison of amino acid sequences of M-CPTI among different animal species, the roles of these amino acids in the enzyme are discussed.  (日)    [継承]
キーワード (推奨): 1. (英) Amino Acid Substitution (日) (読) [継承]
2. (英) Animals (日) (読) [継承]
3. (英) COS Cells (日) (読) [継承]
4. (英) Carnitine O-Palmitoyltransferase (日) (読) [継承]
5. (英) Cercopithecus aethiops (日) (読) [継承]
6. (英) Fatty Acids (日) (読) [継承]
7. (英) Humans (日) (読) [継承]
8. (英) Lipid Metabolism (日) (読) [継承]
9. (英) Lipid Metabolism, Inborn Errors (日) (読) [継承]
10. (英) Mitochondria, Heart (日) (読) [継承]
11. (英) Mutation, Missense (日) (読) [継承]
12. (英) Myocardium (日) (読) [継承]
13. (英) Oxidation-Reduction (日) (読) [継承]
14. (英) Polymorphism, Single Nucleotide (日) (読) [継承]
発行所 (推奨): Springer [継承]
誌名 (必須): Biochemical Genetics ([Kluwer Academic Publishers])
(pISSN: 0006-2928, eISSN: 1573-4927)

ISSN (任意): 0006-2928
ISSN: 0006-2928 (pISSN: 0006-2928, eISSN: 1573-4927)
Title: Biochemical genetics
Title(ISO): Biochem Genet
Supplier: Kluwer Online
Publisher: Springer US
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
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都市 (任意): アムステルダム (Amsterdam/[オランダ王国]) [継承]
年月日 (必須): 西暦 2008年 2月 初日 (平成 20年 2月 初日) [継承]
URL (任意):
DOI (任意): 10.1007/s10528-007-9129-3    (→Scopusで検索) [継承]
PMID (任意): 17987377    (→Scopusで検索) [継承]
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備考 (任意): 1.(英) Article.Affiliation: Faculty of Pharmaceutical Sciences, University of Tokushima, Shomachi-1, Tokushima, Japan. yamazaki@ph.tokushima-u.ac.jp  (日)    [継承]
2.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]
3.(英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't  (日)    [継承]

標準的な表示

和文冊子 ● Naoshi Yamazaki, Taisuke Matsuo, Miho Kurata, Makiko Suzuki, Takehisa Fujiwaki, Seiji Yamaguchi, Hiroshi Terada and Yasuo Shinohara : Substitutions of Three Amino Acids in Human Heart/Muscle Type Carnitine Palmitoyltransferase I Caused by Single Nucleotide Polymorphisms, Biochemical Genetics, Vol.46, No.1-2, 54-63, 2008.
欧文冊子 ● Naoshi Yamazaki, Taisuke Matsuo, Miho Kurata, Makiko Suzuki, Takehisa Fujiwaki, Seiji Yamaguchi, Hiroshi Terada and Yasuo Shinohara : Substitutions of Three Amino Acids in Human Heart/Muscle Type Carnitine Palmitoyltransferase I Caused by Single Nucleotide Polymorphisms, Biochemical Genetics, Vol.46, No.1-2, 54-63, 2008.

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