『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=142541EID:142541, Map:0, LastModified:2012年9月14日(金) 16:51:46, Operator:[三木 ちひろ], Avail:TRUE, Censor:0, Owner:[伊藤 孝司], 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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審査 (推奨):
カテゴリ (推奨):
共著種別 (推奨):
学究種別 (推奨):
組織 (推奨):
著者 (必須): 1. (英) Naganawa Yasunori (日) (読)
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[継承]
2.伊藤 孝司 ([徳島大学.大学院医歯薬学研究部.薬学域.薬科学部門.統合医薬創製科学系.創薬生命工学])
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[継承]
3. (英) Shimmoto Michie (日) (読)
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[継承]
4. (英) Takiguchi Kyoko (日) (読)
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[継承]
5. (英) Doi Hirofumi (日) (読)
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[継承]
6. (英) Nishizawa Yuzuru (日) (読)
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[継承]
7. (英) Kobayashi Takayoshi (日) (読)
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[継承]
8. (英) Kamei Sachiko (日) (読)
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[継承]
9. (英) Pshezhetsky V. Alexey (日) (読)
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10. (英) Potier M. (日) (読)
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[継承]
11. (英) Sakuraba Hitoshi (日) (読)
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[継承]
題名 (必須): (英) Molecular and structural studies of Japanese patients with sialidosis type 1.  (日)    [継承]
副題 (任意):
要約 (任意): (英) To gain insight into the pathogenesis of sialidosis type 1, we performed molecular investigations of two unrelated Japanese patients. Both of them are compound heterozygotes for base substitutions of 649G-to-A and 727G-to-A, which result in amino acid alterations V217M and G243R, respectively. Using homology modeling, the structure of human lysosomal neuraminidase was constructed and the structural changes caused by these missense mutations were deduced. The predicted change due to V217M was smaller than that caused by G243R, the latter resulting in a drastic, widespread alteration. The overexpressed gene products containing these mutations had the same molecular weight as that of the wild type, although the amounts of the products were moderately decreased. A biochemical study demonstrated that the expressed neuraminidase containing a V217M mutation was partly transported to lysosomes and showed residual enzyme activity, although a G243R mutant was retained in the endoplasmic reticulum/Golgi area and had completely lost the enzyme activity. Considering the data, we surmise that the V217M substitution may be closely associated with the phenotype of sialidosis type 1 with a late onset and moderate clinical course.  (日)    [継承]
キーワード (推奨): 1. (英) Adult (日) (読) [継承]
2. (英) Animals (日) (読) [継承]
3. (英) COS Cells (日) (読) [継承]
4.X線結晶学 (X-ray crystallography) [継承]
5. (英) Female (日) (読) [継承]
6. (英) Humans (日) (読) [継承]
7. (英) Immunoblotting (日) (読) [継承]
8.免疫組織化学 (immunohistochemistry) [継承]
9. (英) Male (日) (読) [継承]
10. (英) Models, Molecular (日) (読) [継承]
11. (英) Mucolipidoses (日) (読) [継承]
12. (英) Mutation, Missense (日) (読) [継承]
13. (英) Neuraminidase (日) (読) [継承]
14. (英) Polymerase Chain Reaction (日) (読) [継承]
15. (英) Protein Conformation (日) (読) [継承]
16. (英) Sequence Analysis, DNA (日) (読) [継承]
発行所 (推奨):
誌名 (必須): Journal of Human Genetics (日本人類遺伝学会)
(pISSN: 1434-5161, eISSN: 1435-232X)

ISSN (任意): 1434-5161
ISSN: 1434-5161 (pISSN: 1434-5161, eISSN: 1435-232X)
Title: Journal of human genetics
Title(ISO): J Hum Genet
Publisher: Springer Nature
 (NLM Catalog  (医中誌Web  (Scopus  (CrossRef (Scopus information is found. [need login])
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(必須): 45 [継承]
(必須): 4 [継承]
(必須): 241 249 [継承]
都市 (任意):
年月日 (必須): 西暦 2000年 7月 初日 (平成 12年 7月 初日) [継承]
URL (任意):
DOI (任意): 10.1007/s100380070034    (→Scopusで検索) [継承]
PMID (任意): 10944856    (→Scopusで検索) [継承]
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備考 (任意): 1.(英) Article.Affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, Japan.  (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 ● Yasunori Naganawa, Kouji Itou, Michie Shimmoto, Kyoko Takiguchi, Hirofumi Doi, Yuzuru Nishizawa, Takayoshi Kobayashi, Sachiko Kamei, Alexey V. Pshezhetsky, M. Potier and Hitoshi Sakuraba : Molecular and structural studies of Japanese patients with sialidosis type 1., Journal of Human Genetics, Vol.45, No.4, 241-249, 2000.
欧文冊子 ● Yasunori Naganawa, Kouji Itou, Michie Shimmoto, Kyoko Takiguchi, Hirofumi Doi, Yuzuru Nishizawa, Takayoshi Kobayashi, Sachiko Kamei, Alexey V. Pshezhetsky, M. Potier and Hitoshi Sakuraba : Molecular and structural studies of Japanese patients with sialidosis type 1., Journal of Human Genetics, Vol.45, No.4, 241-249, 2000.

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