Linked Life Data

18409517

Source:http://linkedlifedata.com/resource/pubmed/id/18409517

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2008-4-15
pubmed:abstractText
PRPP(phosphoribosyl pyrophosphate) synthetase catalyzes the formation of PRPP from ATP and ribose 5-phosphate. Human PRPP synthetase exists as heterogeneous aggregates composed of the 34kDa catalytic subunits (PRSI and PRSII) and other 39kDa and 41kDa components designated PRPP synthetase-associated protein (PAP39 and PAP41). A syndrome of increased activity of PRPP synthetase, an X-linked dominant-inherited disorder, is one of the models of gout caused by increased production of uric acid. By now, around twenty cases have been reported over the world. Two different molecular mechanisms underlie this syndrome: (1) point mutation in the gene coding the primary structure of PRPP synthetase causes the substitution of an amino acid residue and, consequently, the regulatory defects, those are resistant traits to allosteric nucleotide feedback inhibition; (2) increased transcription of PRPP synthetase mRNA causes overproduction of this enzyme protein. The mechanism producing increased mRNA is, however, not elucidated. The Japanese case has been found to be caused by the second mechanism.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0047-1852
pubmed:author
pubmed:issnType
Print
pubmed:volume
66
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
694-8
pubmed:dateRevised
2011-7-27
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
[Increased activity of PRPP synthetase].
pubmed:affiliation
Department of Internal Medicine, Itoh Municipal Hospital.
pubmed:publicationType
Journal Article, English Abstract, Review