WordNet

a colorless crystalline organic base containing nitrogen; the parent compound of various biologically important substances
any of several bases that are derivatives of purine
a phosphoric ester of a nucleoside; the basic structural unit of nucleic acids (DNA or RNA) (同)base

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1. プリンヌクレオシドホスホリラーゼ欠損症 purine nucleoside phosphorylase deficiency
2. 肝ホスホリラーゼ欠損症（糖原病VI型、エール病） liver phosphorylase deficiency glycogen storage disease vi hers disease
3. ホスホリラーゼbキナーゼ欠損症 phosphorylase b kinase deficiency
4. 筋ホスホリラーゼ欠損症（糖原病V型、マッカードル病） muscle phosphorylase deficiency glycogen storage disease v mcardle disease
5. 低尿酸血症：原因および臨床的意義 hypouricemia causes and clinical significance

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.
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

Guha Mazumder D, Dasgupta UB.SourceDepartment of Research, DNGM Research Foundation, Kolkata, India. guhamazumder@yahoo.com
The Kaohsiung journal of medical sciences.Kaohsiung J Med Sci.2011 Sep;27(9):360-70. Epub 2011 Jul 27.
Chronic arsenic toxicity (arsenicosis) as a result of drinking arsenic-contaminated groundwater is a major environmental health hazard throughout the world, including India. A lot of research on health effects, including genotoxic effect of chronic arsenic toxicity in humans, have been carried out i
PMID 21914522

Mechanism of Adenosine Production by Xanthine-Requiring Mutants Derived from a Bacillus Strain : Accumulation of Nucleic-Acid-Related Substances by Microorganisms (VI)

HANEDA KATSUJI,KODAIRA RYOJI
Journal of fermentation technology 65(2), 145-151, 1987-04-25
… Limitation of the guanine-related substances in the fermentation medium facilitated the adenosine accumulation, but the excess of those suppressed it.Metabolic regulation of the purine nucleotide biosynthesis was supposed to be released from both feedback inhibition and repression by limiting the concentration of guanine-related substances in the cells caused by xanthine-requirement. …
NAID 110002673071

菊永茂司 [他],田所忠弘,舛重正一,鈴木隆雄
ビタミン 54(12), 537-544, 1980-12-25
… During the feeding, the activities of phosphoribosyl pyrophosphate amidotransferase [EC 2.4.2.14] involved in purine nucleotide de novo synthesis, glutamine synthetase [EC 6.3.1.2] which functions to form glutamine from glutamate and NH_3, and of five enzymes (5'-nucleotidase [EC 3.1.3.5], purine nucleoside phosphorylase [EC 2.4.2.1], adenosine deaminase [EC 3.5.4.4], guanine deaminase [EC 3.5.4.3], and xanthine dehydrogenase [EC 1.2. …
NAID 110002845261

伊藤和彦,佐倉伸夫,臼井朋包,内野治人
Uric acid research 1(2), 51-57, 1977
… Purine nucleotide biosynthesis in human leukocytes completely depends on the salvage pathway since no capacity of purine biosynthesis de novo has been recognized in them. … of the primary immunodeficiency associated with purine nucleoside phosphorylase ( PNP ) deficiency, the physiological importance of PNP was further confirmed. …
NAID 130003354953