Art

J-GLOBAL ID：201802237124330225   Reference number：18A1802064

Use of modified U1 small nuclear RNA for rescue from exon 7 skipping caused by 5′-splice site mutation of human cathepsin A gene

ヒトカテプシンA遺伝子の5′スプライス部位変異により引き起こされるエキソン7スキッピングからのレスキューのための修飾U1小核RNAの使用【JST・京大機械翻訳】

Author (16)： Yamazaki Naoshi (Faculty of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Yamazaki Naoshi (Graduate School of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Kanazawa Keisuke (Faculty of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Kimura Maria (Faculty of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Ike Hironobu (Graduate School of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Shinomiya Makiko (Faculty of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Tanaka Shouko (Faculty of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Shinohara Yasuo (Faculty of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Shinohara Yasuo (Graduate School of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Shinohara Yasuo (Institute of Advanced Medical Sciences, Tokushima University, Kuramoto 3-18, Tokushima 770-8503, Japan) ,  Minakawa Noriaki (Faculty of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Minakawa Noriaki (Graduate School of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Itoh Kohji (Faculty of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Itoh Kohji (Graduate School of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Takiguchi Yoshiharu (Faculty of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan) ,  Takiguchi Yoshiharu (Graduate School of Pharmaceutical Sciences, Tokushima University, Shomachi 1-78, Tokushima 770-8505, Japan)
Material： Gene  (International Journal Focusting on Gene Cloning and Gene Structure and Function)
Volume： 677  Page： 41-48  Publication year： 2018 
JST Material Number： E0701B  ISSN： 0378-1119  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Cathepsin A (CTSA) is a multif...

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Thesaurus term： *Heredity ,  *gene ,  intron ,  Proteins ,  *human ,  patient ,  autosome ,  plasmid ,  interaction ,  *snRNA ,  mRNA ,  Mutation ,  *splice junction ,  *Cathepsin A ,  *Genetic Variation
Semi thesaurus term： *variation(biology) , 【Automatic Indexing@JST】

Author keywords (4)： Exon skipping ,  Galactosialidosis ,  RNA splicing ,  Splice defect

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (8)： ヒト ,  カテプシンA ,  遺伝子 ,  スプライス部位変異 ,  エキソン ,  レスキュー ,  修飾 ,  小核RNA