Linked Life Data

9266429

Source:http://linkedlifedata.com/resource/pubmed/id/9266429

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1997-10-3
pubmed:abstractText
GTP cyclohydrolase I is the rate-limiting enzyme for the biosynthesis of tetrahydrobiopterin, which is the cofactor for tyrosine hydroxylase, the rate-limiting enzyme for dopamine biosynthesis. We found that dominantly inherited, hereditary progressive dystonia (HPD), first described by Segawa and also called dopa responsive dystonia (DRD), is caused by the mutations of GTP cyclohydrolase I gene, the partial decrease in the enzyme activity, and probably in striatal dopamine level, to less than 20% of the normal values. Juvenile parkinsonism and Parkinson's disease are also striatal dopamine deficiency, but no mutation in the enzyme has not been found, and they are supposed to be different from HPD/DRD in which no cell death of the nigrostriatal dopamine neurons occurs.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0303-6995
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
203-9
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.
pubmed:affiliation
Institute for Comprehensive Medical Science, School of Medicine, Fujita Health University, Aichi, Japan.
pubmed:publicationType
Journal Article, Review