TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE To overcome this problem, we developed a non-invasive intranasal delivery system, chitosan coated niosomes with entrapped pentamidine (inPentasomes), in the attempt to provide a novel pharmacological approach to ameliorate parkinsonism induced by subchronic MPTP administration in C57BL-6 J mice. inPentasomes, prepared by evaporation method was administered daily by intranasal route in subchronic MPTP-intoxicated rodents and resulted in a dose-dependent manner (0.001-0.004 mg/kg) capable for a significant Tyrosine Hydroxylase (TH) positive neuronal density rescue in both striatum and substantia nigra of parkinsonian mice. 30529726 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE Here, we investigated sex differences in motor deficits and tyrosine hydroxylase (TH) immunoreactivity induced by a progressive model of parkinsonism. 30690108 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 AlteredExpression group BEFREE Since TH protein has been shown to be involved in the dopamine-producing pathway in previous studies, our results indicate the possibility that manganese-mediated reduction of TH expression and phosphorylation via decreased expression of c-RET protein in neural cells is involved in parkinsonism induced by manganese. 28730349 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE In an in vivo MPTP-induced animal model of Parkinson's disease, oral administration of compound 5b showed neuroprotection of nigrostriatal dopaminergic neurons as revealed by tyrosine hydroxylase staining and prevention of MPTP-induced parkinsonism as revealed by motor behavioral assay of vertical grid test. 28332824 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE The provocation test was developed by a systemic administration of α-methyl-p-tyrosine (αMpT), a reversible inhibitor of tyrosine hydroxylase to MPTP-treated mice at the presymptomatic stage of parkinsonism. 27194433 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE The mutation p.Arg233His was predicted to link to the second type of TH deficiency (dopa-responsive infantile parkinsonism with delayed motor development). 28087438 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 AlteredExpression group BEFREE BAs taken by rats with rotenone-induced parkinsonism showed enhanced general motor performance, reduced inflammatory markers, and increased striatal dopamine level and nigral tyrosine hydroxylase immunostaining. 28249117 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 AlteredExpression group BEFREE In the combined forms, dystonia is accompanied by parkinsonism (GCH1/DYT5a; TH/DYT5b; ATP1A3/DYT12; TAF1/DYT3) or myoclonus (SGCE/DYT11). 24262166 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 AlteredExpression group BEFREE For example, α-synuclein represses TH not only by inhibiting phosphorylation at Ser40 of TH, but also by stimulating protein phosphatase 2A activity, which decreases dopamine synthesis and leads to parkinsonism. 22483316 2012
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Consistent with the essential role of TH in dopamine homeostasis, missense mutations in both alleles of TH have been associated with severe Parkinsonism-related phenotypes including infantile Parkinsonism. 22583432 2012
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome). 22166420 2012
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group RGD Decreased RGS9 protein level in the striatum of rodents undergoing MPTP or 6-OHDA neurotoxicity. 20561938 2010
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. 15747353 2005
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE Intravenous nonviral gene therapy causes normalization of striatal tyrosine hydroxylase and reversal of motor impairment in experimental parkinsonism. 12573054 2003
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 11246459 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group CTD_human Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 11246459 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 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
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Functional polymorphisms of the TH gene may be involved in the pathogenesis of neuropsychiatric diseases such as schizophrenia, affective disorders, and Parkinsonism. 9613851 1998
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 AlteredExpression group BEFREE Our results indicate that the differential regulation of mRNAs encoding TH and DAT is similar in the parkinsonian disorders (PD and AD/Park) even though the degree of cell death is very different. 9399211 1997
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism. 9182249 1996
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group CTD_human Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341 1996
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 GeneticVariation group BEFREE Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341 1996
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group BEFREE Preliminary investigations have examined possible allelic associations, e.g., with alleles of MAO-A and debrisoquine hydroxylase and linkage to the tyrosine hydroxylase gene on chromosome 11p15.5 has been excluded in one study of juvenile familial parkinsonism. 1341965 1992
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.700 Biomarker group HPO