| pubmed-article:8817341 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8817341 | lifeskim:mentions | umls-concept:C0231330 | lld:lifeskim |
| pubmed-article:8817341 | lifeskim:mentions | umls-concept:C0439660 | lld:lifeskim |
| pubmed-article:8817341 | lifeskim:mentions | umls-concept:C0242422 | lld:lifeskim |
| pubmed-article:8817341 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:8817341 | lifeskim:mentions | umls-concept:C0041491 | lld:lifeskim |
| pubmed-article:8817341 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:8817341 | lifeskim:mentions | umls-concept:C0162735 | lld:lifeskim |
| pubmed-article:8817341 | lifeskim:mentions | umls-concept:C2924612 | lld:lifeskim |
| pubmed-article:8817341 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:8817341 | pubmed:dateCreated | 1997-1-16 | lld:pubmed |
| pubmed-article:8817341 | pubmed:abstractText | Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-DOPA), the rate-limiting step in the biosynthesis of dopamine. This report describes a missense point mutation in the human TH (hTH) gene in a girl presenting parkinsonian symptoms in early infancy and a very low level of the dopamine metabolite homovanillic acid in the CSF. DNA sequencing revealed a T614-to-C transition in exon 5 (L205P). Both parents and the patient's brother are heterozygous for the mutation. Site-directed mutagenesis and expression in different systems revealed that the recombinant mutant enzyme had a low homospecific activity, i.e. approximately 1.5% of wt-hTH in E. coli and approximately 16% in a cell-free in vitro transcription-translation system. When transiently expressed in human embryonic kidney (A293) cells a very low specific activity (approximately 0.3% of wt-hTH) and immunoreactive hTH (< 2%) was obtained. The expression studies are compatible with the severe clinical phenotype of the L205P homozygous patient carrying this recessively inherited mutation. Treatment with L-DOPA resulted in normalisation of the CSF homovanillic acid concentration and a sustained improvement in parkinsonian symptoms. | lld:pubmed |
| pubmed-article:8817341 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8817341 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8817341 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8817341 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8817341 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8817341 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8817341 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8817341 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8817341 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8817341 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:8817341 | pubmed:issn | 0964-6906 | lld:pubmed |
| pubmed-article:8817341 | pubmed:author | pubmed-author:FlatmarkTT | lld:pubmed |
| pubmed-article:8817341 | pubmed:author | pubmed-author:BrandM PMP | lld:pubmed |
| pubmed-article:8817341 | pubmed:author | pubmed-author:BartholoméKK | lld:pubmed |
| pubmed-article:8817341 | pubmed:author | pubmed-author:ClaytonP TPT | lld:pubmed |
| pubmed-article:8817341 | pubmed:author | pubmed-author:KnappskogP... | lld:pubmed |
| pubmed-article:8817341 | pubmed:author | pubmed-author:SurteesR ARA | lld:pubmed |
| pubmed-article:8817341 | pubmed:author | pubmed-author:HealesS JSJ | lld:pubmed |
| pubmed-article:8817341 | pubmed:author | pubmed-author:ClellandJ DJD | lld:pubmed |
| pubmed-article:8817341 | pubmed:author | pubmed-author:LüdeckeBB | lld:pubmed |
| pubmed-article:8817341 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8817341 | pubmed:volume | 5 | lld:pubmed |
| pubmed-article:8817341 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8817341 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8817341 | pubmed:pagination | 1023-8 | lld:pubmed |
| pubmed-article:8817341 | pubmed:dateRevised | 2009-9-29 | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:meshHeading | pubmed-meshheading:8817341-... | lld:pubmed |
| pubmed-article:8817341 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8817341 | pubmed:articleTitle | Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. | lld:pubmed |
| pubmed-article:8817341 | pubmed:affiliation | University Children's Hospital, Bochum, Germany. | lld:pubmed |
| pubmed-article:8817341 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8817341 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:8817341 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:7054 | entrezgene:pubmed | pubmed-article:8817341 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8817341 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8817341 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8817341 | lld:pubmed |
