Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency.
de Gusmao CM et al.
Movement Disorders Clinical Practice, 2025
Catecholamines and Parkinson's disease: tyrosine hydroxylase (TH) over tetrahydrobiopterin (BH4) and GTP cyclohydrolase I (GCH1) to cytokines, neuromelanin, and gene therapy: a historical overview.
Nagatsu T
Journal of Neural Transmission (vienna, Austria : 1996), 2024
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.
Jung-Klawitter S et al.
Journal of Inherited Metabolic Disease, 2024
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model.
Jung-Kc K et al.
Journal of Inherited Metabolic Disease, 2024
Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia-A Focus on Tyrosine Hydroxylase Deficiency.
Nygaard G et al.
Journal of Personalized Medicine, 2021
Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.
Wassenberg T et al.
Molecular Genetics and Metabolism Reports, 2021
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Tristán-Noguero A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Human tyrosine hydroxylase in Parkinson's disease and in related disorders.
Nagatsu T et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2019
Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report.
Feng B et al.
Medicine, 2018
Nonmotor Symptoms in Dopa-Responsive Dystonia.
Antelmi E et al.
Movement Disorders Clinical Practice, 2015
Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms.
Hole M et al.
Biochimica Et Biophysica Acta, 2015
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
Fossbakk A et al.
Human Mutation, 2014
Computational study of human tyrosine hydroxylase mutants to uphold [4-(Propan-2-yl) Phenyl]Carbamic acid as a potential inhibitor.
Nawaz MS et al.
Cns & Neurological Disorders Drug Targets, 2014
Review: genetics and neuropathology of primary pure dystonia.
Paudel R et al.
Neuropathology and Applied Neurobiology, 2012
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
Stamelou M et al.
Neurology, 2012
A specific subtype of infantile Parkinsonism-dystonia identified.
Fisher E
Clinical Genetics, 2011
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA et al.
Brain : a Journal of Neurology, 2010
Molecular epidemiology of major depressive disorder.
Kiyohara C et al.
Environmental Health and Preventive Medicine, 2009
Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase.
Thöny B et al.
Journal of Neurochemistry, 2008
Tyrosine hydroxylase, the rate-limiting enzyme in catecholamine biosynthesis: discovery of common human genetic variants governing transcription, autonomic activity, and blood pressure in vivo.
Rao F et al.
Circulation, 2007
Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids.
Hyland K
The Journal of Nutrition, 2007
Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.
Simard J et al.
Endocrine Reviews, 2005
Functional allelic heterogeneity and pleiotropy of a repeat polymorphism in tyrosine hydroxylase: prediction of catecholamines and response to stress in twins.
Zhang L et al.
Physiological Genomics, 2004
Genetic contributions to Parkinson's disease.
Huang Y et al.
Brain Research. Brain Research Reviews, 2004
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
Hoffmann GF et al.
Annals of Neurology, 2003
Aromatic amino acid hydroxylase genes and schizophrenia.
Chao HM et al.
American Journal of Medical Genetics, 2002
Normal dopamine transporter binding in dopa responsive dystonia.
Huang CC et al.
Journal of Neurology, 2002
Exon 3 of tyrosine hydroxylase gene: lack of association with Japanese schizophrenic patients.
Ota M et al.
Molecular Psychiatry, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
DE Lonlay P et al.
Journal of Inherited Metabolic Disease, 2000
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG et al.
European Journal of Human Genetics : Ejhg, 2000
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.
Janssen RJ et al.
Annals of Human Genetics, 2000
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.
Dionisi-Vici C et al.
The Journal of Pediatrics, 2000
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
Bräutigam C et al.
Clinical Chemistry, 1999
Molecular genetics of dopa-responsive dystonia.
Ichinose H et al.
Biological Chemistry, 1999
Dopa-responsive dystonia: recent advances and remaining issues to be addressed.
Furukawa Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 1999
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
Wevers RA et al.
Journal of Inherited Metabolic Disease, 1999
[The relation between metabolism of biopterin and dystonia-parkinsonism].
Ichinose H et al.
Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 1999
Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.
Nagatsu T et al.
Molecular Neurobiology, 1999
Molecular genetics of DOPA-responsive dystonia.
Ichinose H et al.
Advances in Neurology, 1999
Biochemical hallmarks of tyrosine hydroxylase deficiency.
Bräutigam C et al.
Clinical Chemistry, 1998
Tyrosine hydroxylase and Parkinson's disease.
Haavik J et al.
Molecular Neurobiology, 1998
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
van den Heuvel LP et al.
Human Genetics, 1998
Mutational and biochemical analysis of dopamine in dystonia: evidence for decreased dopamine D2 receptor inhibition.
Todd RD et al.
Molecular Neurobiology, 1998
Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.
Kunugi H et al.
American Journal of Medical Genetics, 1998
Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia.
Bartholomé K et al.
Advances in Pharmacology (san Diego, Calif.), 1998
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
Lüdecke B et al.
Human Molecular Genetics, 1996