Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
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
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.
|
28087438 |
2017 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
|
26276013 |
2015 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
|
24753243 |
2014 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
|
23480488 |
2013 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Tyrosine hydroxylase deficiency in Taiwanese infants.
|
22264700 |
2012 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
|
20823027 |
2011 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype.
|
21465550 |
2011 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.
|
20492352 |
2010 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
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
|
0.500 |
GeneticVariation
|
phenotype |
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
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
|
20430833 |
2010 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
|
20056467 |
2010 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Tyrosine hydroxylase deficiency with severe clinical course.
|
19282209 |
2009 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
|
18554280 |
2008 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
|
17696123 |
2007 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH) gene have been described recently.
|
15747353 |
2005 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.
|
15468323 |
2005 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.
|
15468323 |
2005 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
[TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia].
|
15476168 |
2004 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
|
15505183 |
2004 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
|
12891655 |
2003 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
|
10407773 |
1999 |