Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We expressed isoform 1 of human TH (hTH1) and its dystonia-associated missense variants in E. coli, analysed their quaternary structure and thermal stability using size-exclusion chromatography, circular dichroism, multi-angle light scattering, transmission electron microscopy, small-angle X-ray scattering and assayed hydroxylase activity.
|
30411798 |
2019 |
Dystonia Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Because of its key regulatory role in central and peripheral catecholamine synthesis, TH is associated with the pathogenesis of several neurological and psychiatric diseases, including Parkinson's disease, dystonia, schizophrenia, affective disorders, and cardiovascular diseases.
|
23537934 |
2013 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Missense mutation in both alleles of the TH gene is known to cause dopamine-related phenotypes, including dystonia and infantile Parkinsonism.
|
20809526 |
2010 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5.
|
20425035 |
2010 |
Dystonia Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Our results suggest that the interaction of tyrosine hydroxylase and mutant torsinA may contribute to the phenotype and reported dopaminergic dysfunction in torsinA-mediated dystonia.
|
19761814 |
2009 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.
|
15468323 |
2005 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH) gene have been described recently.
|
15747353 |
2005 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism.
|
10661862 |
1999 |
Dystonia Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
These results indicate that tyrosine hydroxylase in the nigrostriatal dopamine neurons may be most sensitive to tetrahydrobiopterin deficiency causing dystonia.
|
9205791 |
1997 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.
|
9182249 |
1996 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
It has been suggested that a form of inherited dystonia responsive to levodopa might be due to an abnormality of tyrosine hydroxylase gene.
|
2565377 |
1989 |