Art

J-GLOBAL ID：202002279939931388   Reference number：20A0430510

A Patient With CAD Deficiency Responsive to Uridine and Literature Review

ウリジンに応答したCAD欠損患者と文献レビュー【JST・京大機械翻訳】

Author (4)： Zhou Ling (Department of Pediatrics, Peking University First Hospital, Beijing, China) ,  Xu Han (Department of Pediatrics, Peking University First Hospital, Beijing, China) ,  Wang Tianshuang (Department of Pediatrics, Peking University First Hospital, Beijing, China) ,  Wu Ye (Department of Pediatrics, Peking University First Hospital, Beijing, China)
Material： Frontiers in Neurology (Web)
Volume： 11  Page： 64  Publication year： 2020 
JST Material Number： U7085A  ISSN： 1664-2295  Document type： Article
Article type： 文献レビュー  Country of issue： Switzerland (CHE)  Language： ENGLISH (EN)

Abstract/Point： CAD encodes a multifunctional ...

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Thesaurus term： *literature review ,  man ,  publications ,  metabolic error ,  epilepsy ,  biosynthesis ,  mutation ,  multifunctional enzyme ,  anemia ,  seizure(disease) ,  woman ,  drug resistance ,  nitrogen heterocyclic compound ,  pyrimidine nucleoside ,  ribonucleoside
Semi thesaurus term： エキソソーム , 【Automatic Indexing@JST】

Author keywords (5)： CAD ,  developmental delay ,  epilepsy ,  anemia ,  uridine

JST classification (1)： Nervous system diseases  (GN03000O)

Substance index (2)： Pyrimidine ,  Uridine

Reference (9)：

• Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, et al. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Hum Mol Genet. (2015) 24: 3050-7. doi: 10.1093/hmg/ddv057
• Chen KC, Vannais DB, Jones C, Patterson D, Davidson JN. Mapping of the gene encoding the multifunctional protein carrying out the first three steps of pyrimidine biosynthesis to human chromosome 2. Hum Genet. (1989) 82:40-4. doi: 10.1007/bf00288269
• Chen S, Bigner SH, Modrich P. High rate of CAD gene amplification in human cells deficient in MLH1 or MSH6. Proc Natl Acad Sci USA. (2001) 98:13802-7. doi: 10.1073/pnas.241508098
• Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, et al. CAD mutations and uridine-responsive epileptic encephalopathy. Brain. (2017) 140:279-86. doi: 10.1093/brain/aww300
• Huang M, Graves LM. De novo synthesis of pyrimidine nucleotides; emerging interfaces with signal transduction pathways. Cell Mol Life Sci. (2003) 60:321-36. doi: 10.1007/s000180300027

Terms in the title (6)： ウリジン ,  応答 ,  CAD ,  欠損 ,  患者 ,  文献レビュー