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Congenital diseases caused by defective O-glycosylation of Notch receptors
https://doi.org/10.18999/nagjms.80.3.299
https://doi.org/10.18999/nagjms.80.3.299ee11b356-4ebe-4889-835e-8dc808899250
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
02_Tashima.pdf (446.1 kB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2018-08-28 | |||||
| タイトル | ||||||
| タイトル | Congenital diseases caused by defective O-glycosylation of Notch receptors | |||||
| 言語 | en | |||||
| 著者 |
Tashima, Yuko
× Tashima, Yuko× Okajima, Tetsuya |
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| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 権利 | ||||||
| 言語 | en | |||||
| 権利情報Resource | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |||||
| 権利情報 | Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Notch receptor | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | O-glycosylation | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | epidermal growth factor-like repeat | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | EGF domain-specific O-GlcNAc transferase | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Adams-Oliver syndrome | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | The Notch signaling pathway is highly conserved and essential for animal development. It is required for cell differentiation, survival, and proliferation. Regulation of Notch signaling is a crucial process for human health. Ligands initiate a signal cascade by binding to Notch receptors expressed on a neighboring cell. Notch receptors interact with ligands through their epidermal growth factor-like repeats (EGF repeats). Most EGF repeats are modified by O-glycosylation with residues such as O-linked N-acetylglucosamine (O-GlcNAc), O-fucose, and O-glucose. These O-glycan modifications are important for Notch function. Defects in O-glycosylation affect Notch-ligand interaction, trafficking of Notch receptors, and Notch stability on the cell surface. Although the roles of each modification are not fully understood, O-fucose is essential for binding of Notch receptors to their ligands. We reported an EGF domain-specific O-GlcNAc transferase (EOGT) localized in the endoplasmic reticulum. Mutations in genes encoding EOGT or NOTCH1 cause Adams-Oliver syndrome. Dysregulation of Notch signaling because of defects or mutations in Notch receptors or Notch signal-regulating proteins, such as glycosyltransferases, induce a variety of congenital disorders. In this review, we discuss O-glycosylation of Notch receptors and congenital human diseases caused by defects in O-glycans on Notch receptors. | |||||
| 言語 | en | |||||
| 出版者 | ||||||
| 出版者 | Nagoya University Graduate School of Medicine, School of Medicine | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | departmental bulletin paper | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| ID登録 | ||||||
| ID登録 | 10.18999/nagjms.80.3.299 | |||||
| ID登録タイプ | JaLC | |||||
| 関連情報 | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/803.html | |||||
| ISSN（print） | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 0027-7622 | |||||
| ISSN（Online） | ||||||
| 収録物識別子タイプ | EISSN | |||||
| 収録物識別子 | 2186-3326 | |||||
| 書誌情報 |
en : Nagoya Journal of Medical Science 巻 80, 号 3, p. 299-307, 発行日 2018-08 |
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| 著者版フラグ | ||||||
| 値 | publisher | |||||
