Art

J-GLOBAL ID：201302291107911943   Reference number：13A0730856

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

オートファジー:オートファジー遺伝子WDR45のde novo変異はSENDA(static encephalopathy of childhood with neurodegeneration in adulthood)を引き起こす

Author (23)： SAITSU Hirotomo (Yokohama City Univ., Yokohama, JPN) ,  KODERA Hirofumi (Yokohama City Univ., Yokohama, JPN) ,  NISHIYAMA Kiyomi (Yokohama City Univ., Yokohama, JPN) ,  KONDO Yukiko (Yokohama City Univ., Yokohama, JPN) ,  TSURUSAKI Yoshinori (Yokohama City Univ., Yokohama, JPN) ,  NAKASHIMA Mitsuko (Yokohama City Univ., Yokohama, JPN) ,  MIYAKE Noriko (Yokohama City Univ., Yokohama, JPN) ,  MATSUMOTO Naomichi (Yokohama City Univ., Yokohama, JPN) ,  NISHIMURA Taki (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  MIZUSHIMA Noboru (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  NISHIMURA Taki (Univ. Tokyo, Tokyo, JPN) ,  MIZUSHIMA Noboru (Univ. Tokyo, Tokyo, JPN) ,  MURAMATSU Kazuhiro (Gunma Univ. Graduate School of Medicine, Gunma, JPN) ,  SAWAURA Noriko (Gunma Univ. Graduate School of Medicine, Gunma, JPN) ,  ARAKAWA Hirokazu (Gunma Univ. Graduate School of Medicine, Gunma, JPN) ,  KUMADA Satoko (Tokyo Metropolitan Neurological Hospital, Tokyo, JPN) ,  KASAI-YOSHIDA Emi (Tokyo Metropolitan Neurological Hospital, Tokyo, JPN) ,  SUGAI Kenji (National Center of Neurology and Psychiatry, Tokyo, JPN) ,  NISHIDA Hiroya (National Rehabilitation Center for Children with Disabilities, Tokyo, JPN) ,  HOSHINO Ai (National Rehabilitation Center for Children with Disabilities, Tokyo, JPN) ,  RYUJIN Fukiko (Shiga Univ. Medical Sci., Shiga, JPN) ,  YOSHIOKA Seiichiro (Shiga Univ. Medical Sci., Shiga, JPN) ,  KATO Mitsuhiro (Yamagata Univ. Fac. of Medicine, Yamagata, JPN)
Material： Nature Genetics  (Nat Genet)
Volume： 45  Issue： 4  Page： 445-449  Publication year： Apr. 2013 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *Phagocytosis ,  gene ,  *brain disease ,  Mutation ,  Alternative Splicing ,  nucleotide sequence ,  genome ,  intracellular accumulation ,  human ,  X Chromosome ,  *Autophagy ,  *WDR45 gene ,  Exome ,  molecular genetic phenomenon
Semi thesaurus term： SENDA ,  *Autophagocytosis ,  *脳内鉄沈着神経変性症

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (3)： オートファジー ,  遺伝子 ,  変異