『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=358986EID:358986, Map:0, LastModified:2020年9月2日(水) 19:05:19, Operator:[橋本 登], Avail:TRUE, Censor:0, Owner:[橋本 登], 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]
招待 (推奨):
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) Bhuiyan H. Robiul (日) (読)
役割 (任意):
貢献度 (任意):
学籍番号 (推奨):
[継承]
2. (英) Ohmi Yuhsuke (日) (読)
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貢献度 (任意):
学籍番号 (推奨):
[継承]
3. (英) Ohkawa Yuki (日) (読)
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貢献度 (任意):
学籍番号 (推奨):
[継承]
4. (英) Zhang Pu (日) (読)
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貢献度 (任意):
学籍番号 (推奨):
[継承]
5. (英) Takano Maiko (日) (読)
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貢献度 (任意):
学籍番号 (推奨):
[継承]
6.橋本 登 ([徳島大学.大学院医歯薬学研究部.歯学域.先端歯学教育研究プロジェクト]/[徳島大学.大学院医歯薬学研究部.歯学域.口腔科学部門.基礎歯学系.組織再生制御学])
役割 (任意):
貢献度 (任意):
学籍番号 (推奨):
[継承]
7. (英) Okajima Tetsuya (日) (読)
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貢献度 (任意):
学籍番号 (推奨):
[継承]
8. (英) Furukawa Keiko (日) (読)
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貢献度 (任意):
学籍番号 (推奨):
[継承]
9. (英) Furukawa Koichi (日) (読)
役割 (任意):
貢献度 (任意):
学籍番号 (推奨):
[継承]
題名 (必須): (英) Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice.  (日)    [継承]
副題 (任意):
要約 (任意): (英) B4GALNT1 is an enzyme essential for the synthesis of complex gangliosides, whose absence leads to progressive neurodegeneration with aging in mice. Recently, eleven cases of hereditary spastic paraplegia with mutation in the coding region of B4GALNT1 were reported. However, changes in the enzymatic activity of their products have never been studied. We have constructed expression vectors for individual mutant cDNAs, and examined their activities by cell-free in vitro enzyme assays, and flow cytometry of cells transfected with their expression vectors. Among them, almost all mutant genes showed the complete loss of B4GALNT1 activity in both the in vitro enzyme assays and flow cytometry. Two mutants exceptionally showed weak activity. One of them, M4, had a mutation at amino acid 228 with a premature termination codon. Interestingly, the intensity of fluorescence of GM2 measured by flow cytometry was equivalent between the WT and M4 mutant, although the positive cell population was relatively small in M4. Western immunoblotting of cell lysates from transfectants with cDNA plasmids revealed 67-kDa bands except those containing premature termination codons or frame-shift mutation. Taken together with the clinical findings of patients, loss of enzyme activity may be responsible for the clinical features of hereditary spastic paraplegia, whereas the intensity of neurological disorders was relatively milder than expected. These clinical features of patients including those with male hypogonadism are very similar to the abnormal phenotypes detected in B4galnt1-deficient mice.  (日)    [継承]
キーワード (推奨): 1. (英) Animals (日) (読) [継承]
2. (英) CHO Cells (日) (読) [継承]
3. (英) Cell Line, Tumor (日) (読) [継承]
4. (英) Cricetulus (日) (読) [継承]
5. (英) Disease Models, Animal (日) (読) [継承]
6. (英) HEK293 Cells (日) (読) [継承]
7. (英) Humans (日) (読) [継承]
8. (英) Mice, Knockout (日) (読) [継承]
9. (英) Mutation (日) (読) [継承]
10. (英) N-Acetylgalactosaminyltransferases (日) (読) [継承]
11. (英) Phenotype (日) (読) [継承]
12. (英) Spastic Paraplegia, Hereditary (日) (読) [継承]
発行所 (推奨):
誌名 (必須): Neuroscience ([International Brain Research Organization])
(pISSN: 0306-4522, eISSN: 1873-7544)

ISSN (任意): 1873-7544
ISSN: 0306-4522 (pISSN: 0306-4522, eISSN: 1873-7544)
Title: Neuroscience
Title(ISO): Neuroscience
Publisher: Elsevier Ltd
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
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(必須): 397 [継承]
(必須):
(必須): 94 106 [継承]
都市 (任意):
年月日 (必須): 西暦 2018年 12月 4日 (平成 30年 12月 4日) [継承]
URL (任意):
DOI (任意): 10.1016/j.neuroscience.2018.11.034    (→Scopusで検索) [継承]
PMID (任意): 30521973    (→Scopusで検索) [継承]
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Scopus (任意):
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備考 (任意): 1.(英) Article.ELocationID: S0306-4522(18)30776-0  (日)    [継承]
2.(英) Article.ELocationID: 10.1016/j.neuroscience.2018.11.034  (日)    [継承]
3.(英) Article.PublicationTypeList.PublicationType: Comparative Study  (日)    [継承]
4.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]
5.(英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't  (日)    [継承]
6.(英) KeywordList.Keyword: B4GALNT1  (日)    [継承]
7.(英) KeywordList.Keyword: ganglioside  (日)    [継承]
8.(英) KeywordList.Keyword: glycosphingolipid  (日)    [継承]
9.(英) KeywordList.Keyword: golgi  (日)    [継承]
10.(英) KeywordList.Keyword: hereditary spastic paraplegia  (日)    [継承]
11.(英) KeywordList.Keyword: termination codon  (日)    [継承]

標準的な表示

和文冊子 ● Robiul H. Bhuiyan, Yuhsuke Ohmi, Yuki Ohkawa, Pu Zhang, Maiko Takano, Noboru Hashimoto, Tetsuya Okajima, Keiko Furukawa and Koichi Furukawa : Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice., Neuroscience, Vol.397, (号), 94-106, 2018.
欧文冊子 ● Robiul H. Bhuiyan, Yuhsuke Ohmi, Yuki Ohkawa, Pu Zhang, Maiko Takano, Noboru Hashimoto, Tetsuya Okajima, Keiko Furukawa and Koichi Furukawa : Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice., Neuroscience, Vol.397, (号), 94-106, 2018.

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