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論文
- タイトル
- タイトル（英）
- Generation and characterization of transgenic mice expressing a human mutant α-galactosidase with an R301Q substitution causing a variant form of Fabry disease
- 参照URL
- https://researchmap.jp/Yonejii20030920/published_papers/38295537
- 著者
- 著者（英）
- Michie Shimmoto,Ryoichi Kase,Kohji Itoh,Kouichi Utsumi,Satoshi Ishii,Choji Taya,Hiromichi Yonekawa,Hitoshi Sakuraba
- 担当区分
- 概要
- 概要（英）
- Transgenic mice expressing a human mutant α-galactosidase with an R301Q substitution, which was found in a patient with a variant form of Fabry disease, were established. The mice transcribed a sufficient amount of α-galactosidase mRNA, but the steady-state levels of the enzyme protein were decreased in liver, kidney and heart, only residual activity being detected in these tissues. The mice will be useful for the clarification of the defective regulation of the structurally altered enzyme protein expressed by the mutant gene at the organ or individual level as well as for the evaluation of drugs that stabilize and/or activate the mutant α-galactosidase.
- 出版者・発行元
- 出版者・発行元（英）
- 誌名
- 誌名（英）
- FEBS Letters
- 巻
- 417
- 号
- 1
- 開始ページ
- 89
- 終了ページ
- 91
- 出版年月
- 1997年11月3日
- 査読の有無
- 査読有り
- 招待の有無
- 掲載種別
- 研究論文（学術雑誌）
- ISSN
- 0014-5793
- DOI URL
- https://doi.org/10.1016/S0014-5793(97)01263-5
- 共同研究・競争的資金等の研究課題
研究者
米川 博通
( )