PRPP synthetase superactivity

同

phosphoribosylpyrophosphate

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• 1. ヘキソースリン酸側路およびグルタチオン代謝疾患（グルコース-6-リン酸脱水素酵素欠損症を除く） disorders of the hexose monophosphate shunt and glutathione metabolism other than glucose 6 phosphate dehydrogenase deficiency
• 2. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency
• 3. 尿素サイクル障害：臨床的特徴および診断 urea cycle disorders clinical features and diagnosis
• 4. 尿素サイクル障害：管理 urea cycle disorders management
• 5. 成人における皮膚筋炎および多発性筋炎の臨床症状 clinical manifestations of dermatomyositis and polymyositis in adults

English Journal

• Wild-type and feedback-resistant phosphoribosyl pyrophosphate synthetases from Bacillus amyloliquefaciens: purification, characterization, and application to increase purine nucleoside production.

• Zakataeva NP, Romanenkov DV, Skripnikova VS, Vitushkina MV, Livshits VA, Kivero AD, Novikova AE.SourceAjinomoto-Genetika Research Institute, 1-st Dorozhny Proezd, b.1-1, Moscow, 117545, Russia. natalia_zakataeva@agri.ru
• Applied microbiology and biotechnology.Appl Microbiol Biotechnol.2012 Mar;93(5):2023-33. doi: 10.1007/s00253-011-3687-3. Epub 2011 Nov 15.
• Bacillus strains are used for the industrial production of the purine nucleosides inosine and guanosine, which are raw materials for the synthesis of the flavor enhancers disodium inosinate and disodium guanylate. An important precursor of purine nucleosides is 5-phospho-α-D: -ribosyl-1-pyrophospha
• PMID 22083279

• Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

• Moran R, Kuilenburg AB, Duley J, Nabuurs SB, Retno-Fitri A, Christodoulou J, Roelofsen J, Yntema HG, Friedman NR, van Bokhoven H, de Brouwer AP.SourceCleveland Clinic Foundation, Genomic Medicine Institute, Cleveland, Ohio, USA.
• American journal of medical genetics. Part A.Am J Med Genet A.2012 Feb;158A(2):455-60. doi: 10.1002/ajmg.a.34428. Epub 2012 Jan 13.
• We identified a novel missense mutation, c.424G>C (p.Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections. The uric acid overproduction accompanying this combination of symptoms sugg
• PMID 22246954

• The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?

• Duley JA, Christodoulou J, de Brouwer AP.SourceUniversity of Queensland and Mater Medical Research Institute, Brisbane, Australia. jduley@pharmacy.uq.edu.au
• Nucleosides, nucleotides & nucleic acids.Nucleosides Nucleotides Nucleic Acids.2011 Dec;30(12):1129-39. doi: 10.1080/15257770.2011.591747.
• Defects in X-linked phosphoribosylpyrophosphate synthetase 1 (PRPS1) manifest as follows: (1) PRS-I enzyme "superactivity" (gain-of-function mutations affecting allosteric regions); (2) PRS-I overexpression (which may be linked to miRNA mutation); (3) severe PRS-I deficiency/Arts syndrome (missense
• PMID 22132967

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関連記事	「PR」「PRP」「synthetase」「PRPP synthetase」「PRPP」

「PR」

　　[★]

• 部分寛解 partial remission
• 肺動脈弁閉鎖不全症 肺動脈弁閉鎖不全症 pulmonary regurgitation
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• (心電図)PR interval

　

「PRP」

　　[★]

• platelet-rich plasma platelet rich plasma 多血小板血漿
• progressive rubella panencephalitis
• polyribosylribitrol phosphate
• pan retinal photocoagulation 汎網膜光凝固

「synthetase」

　　[★]

• n.

• (ATPやNADを必要とする2分子連結酵素リガーゼの別名)シンテターゼ、シンセターゼ、連結酵素、合成酵素

関

ligase、synthase

「PRPP synthetase」

　　[★] ホスホリボシルピロリン酸合成酵素

同

5-phosphoribosyl-l-pyrophosphate

「PRPP」

　　[★] 5-ホスホリボシル1α-ニリン酸