Art

J-GLOBAL ID：201902269412379165   Reference number：19A1216281

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome

ミトコンドリアリボソーム蛋白質PTCD3変異はLeigh症候群による酸化的リン酸化欠損を引き起こす【JST・京大機械翻訳】

Author (16)： Borna Nurun Nahar (Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan) ,  Kishita Yoshihito (Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan) ,  Kohda Masakazu (Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan) ,  Lim Sze Chern (Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan) ,  Shimura Masaru (Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan) ,  Wu Yibo (Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan) ,  Mogushi Kaoru (Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan) ,  Yatsuka Yukiko (Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan) ,  Harashima Hiroko (Department of Pediatrics, Saitama Medical University, Moroyama, Saitama, Japan) ,  Hisatomi Yuichiro (Department of Pediatrics, Kumamoto City Hospital, Kumamoto, Japan) ,  Fushimi Takuya (Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan) ,  Ichimoto Keiko (Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan) ,  Murayama Kei (Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan) ,  Ohtake Akira (Department of Pediatrics, Saitama Medical University, Moroyama, Saitama, Japan) ,  Okazaki Yasushi (Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan) ,  Okazaki Yasushi (Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan)
Material： Neurogenetics
Volume： 20  Issue： 1  Page： 9-25  Publication year： 2019 
JST Material Number： W1829A  ISSN： 1364-6745  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Abstract/Point： Pentatricopeptide repeat domai...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=19A1216281&from=J-GLOBAL&jstjournalNo=W1829A") }}

Thesaurus term： human ,  *Mitochondria ,  *oxidative phosphorylation ,  biosynthesis ,  Optic Atrophy ,  amentia ,  RNA Editing ,  gene ,  peptide ,  fibroblast ,  *Proteins ,  pathogenicity ,  rRNA ,  Oxygen Consumption ,  *Genetic Variation ,  molecular genetic phenomenon ,  consumption
Semi thesaurus term： oxygen consumption ,  *variation(biology) , 【Automatic Indexing@JST】

Author keywords (5)： Leigh syndrome ,  Oxidative phosphorylation ,  PTCD3 ,  Small mitoribosomal subunit ,  Mitochondrial translation

JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (6)： ミトコンドリア ,  リボソーム蛋白質 ,  変異 ,  Leigh症候群 ,  酸化的リン酸化 ,  欠損