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Function, Subcellular Localization and Assembly of a Novel Mutation of KCNJ2 in Andersen's Syndrome
http://hdl.handle.net/10191/4874
http://hdl.handle.net/10191/48742cf5f408-8c31-4da0-9e55-122594a7d92a
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
JMCC all.pdf (235.8 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2007-06-04 | |||||
| タイトル | ||||||
| タイトル | Function, Subcellular Localization and Assembly of a Novel Mutation of KCNJ2 in Andersen's Syndrome | |||||
| タイトル | ||||||
| タイトル | Function, Subcellular Localization and Assembly of a Novel Mutation of KCNJ2 in Andersen's Syndrome | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Andersen's syndrome | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | mutation | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | KCNJ2 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | potassium channel | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | long QT | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | ventricular tachycardia | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | patch-clamp | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | confocal laser scanning microscopy | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | trafficking | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | fluorescence resonance energy transfer(FRET) | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | journal article | |||||
| 著者 |
Hosaka, Yukio
× Hosaka, Yukio× Hanawa, Haruo× Washizuka, Takashi× Chinushi, Masaomi× Yamashita, Fumio× Yoshida, Tsuyoshi× Komura, Satoru× Watanabe, Hiroshi× Aizawa, Yoshifusa |
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| 著者別名 | ||||||
| 識別子Scheme | WEKO | |||||
| 識別子 | 6785 | |||||
| 姓名 | 塙, 晴雄 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Andersen’s syndrome, which is characterized by periodic paralysis, cardiac arrhythmias and dysmorphic features, is a hereditary disease, and missense mutations of KCNJ2, which encodes an inward rectifying potassium channel, have been reported recently. We performed clinical and molecular analyses of a patient with Andersen’s syndrome, and found a novel mutation (G215D) of KCNJ2. Twelve lead electrocardiography revealed a long QT interval and frequent premature ventricular contractions, and polymorphic ventricular tachycardia was induced by programmed electrical stimulation. Use of a conventional whole-cell patch-clamp system with COS7 cells demonstrated that the G215D mutant was non functional, and that co-expression of wild type (WT)- and mutant-KCNJ2 shows a dominant negative effect on both inward and outward currents. We performed confocal laser scanning microscopy to assess the cellular trafficking of WT- and mutant-KCNJ2 subunits tagged with yellow fluorescent protein (YFP) and cyan fluorescent protein (CFP), respectively. Tagging with the YFP did not affect the channel function of WT-KCNJ2 and both proteins showed similar plasma membrane fluorescence patterns. Furthermore, the result of fluorescence resonance energy transfer (FRET) studies at the plasma membrane region suggested that both YFP-tagged WT- and CFP-tagged mutant-KCNJ2 combine to construct a hetero-multimer of the potassium channel. In conclusion, the G215D mutant of KCNJ2 is distributed normally in the plasma membrane, but exhibits a dominant negative effect and reduces the Kir2.1 current, presumably due to hetero-multimer construction. | |||||
| 書誌情報 |
Journal of Molecular and Cellular Cardiology en : Journal of Molecular and Cellular Cardiology 巻 35, 号 4, p. 409-415, 発行日 2003-04 |
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| 出版者 | ||||||
| 出版者 | Elsevier Science Ltd. | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 00222828 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00702819 | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | info:doi/10.1016/S0022-2828(03)00046-4 | |||||
| 著者版フラグ | ||||||
| 値 | author | |||||
