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著作: Bhuiyan H. Robiul/Ohmi Yuhsuke/Ohkawa Yuki/Zhang Pu/Takano Maiko/[橋本 登]/Okajima Tetsuya/Furukawa Keiko/Furukawa Koichi/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]

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EID
358986
EOID
990971
Map
0
LastModified
2020年9月2日(水) 19:05:19
Operator
橋本 登
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橋本 登
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種別 必須 学術論文(審査論文)
言語 必須 英語
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
    役割 任意
    貢献度 任意
    学籍番号 推奨
  2. (英) Ohmi Yuhsuke
    役割 任意
    貢献度 任意
    学籍番号 推奨
  3. (英) Ohkawa Yuki
    役割 任意
    貢献度 任意
    学籍番号 推奨
  4. (英) Zhang Pu
    役割 任意
    貢献度 任意
    学籍番号 推奨
  5. (英) Takano Maiko
    役割 任意
    貢献度 任意
    学籍番号 推奨
  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
  7. (英) Okajima Tetsuya
    役割 任意
    貢献度 任意
    学籍番号 推奨
  8. (英) Furukawa Keiko
    役割 任意
    貢献度 任意
    学籍番号 推奨
  9. (英) Furukawa Koichi
    役割 任意
    貢献度 任意
    学籍番号 推奨
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.

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.

キーワード 推奨
  1. (英) Animals
  2. (英) CHO Cells
  3. (英) Cell Line, Tumor
  4. (英) Cricetulus
  5. (英) Disease Models, Animal
  6. (英) HEK293 Cells
  7. (英) Humans
  8. (英) Mice, Knockout
  9. (英) Mutation
  10. (英) N-Acetylgalactosaminyltransferases
  11. (英) Phenotype
  12. (英) Spastic Paraplegia, Hereditary
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])
必須 397
必須
必須 94 106
都市 任意
年月日 必須 2018年 12月 4日
URL 任意
DOI 任意 10.1016/j.neuroscience.2018.11.034    (→Scopusで検索)
PMID 任意 30521973    (→Scopusで検索)
CRID 任意
WOS 任意
Scopus 任意
評価値 任意
被引用数 任意
指導教員 推奨
備考 任意
  1. (英) Article.ELocationID: S0306-4522(18)30776-0

  2. (英) Article.ELocationID: 10.1016/j.neuroscience.2018.11.034

  3. (英) Article.PublicationTypeList.PublicationType: Comparative Study

  4. (英) Article.PublicationTypeList.PublicationType: Journal Article

  5. (英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't

  6. (英) KeywordList.Keyword: B4GALNT1

  7. (英) KeywordList.Keyword: ganglioside

  8. (英) KeywordList.Keyword: glycosphingolipid

  9. (英) KeywordList.Keyword: golgi

  10. (英) KeywordList.Keyword: hereditary spastic paraplegia

  11. (英) KeywordList.Keyword: termination codon