Associated Papers
Striatal cell-type-specific molecular signatures reveal potential therapeutic targets in a model of dystonia.
Roman KM et al.
Neurobiology of Disease, 2025
Striatal cell-type-specific molecular signatures reveal therapeutic targets in a model of dystonia.
Roman KM et al.
Biorxiv : the Preprint Server for Biology, 2024
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B 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
Parkinsonism originates in a discrete secondary and dystonia in a primary motor cortical-basal ganglia subcircuit.
Kumbhare D et al.
Journal of Neuroscience Research, 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
Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders.
Briscione MA et al.
Molecular Genetics and Metabolism, 2021
Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review.
Dong HY et al.
Medicine, 2020
Human tyrosine hydroxylase in Parkinson's disease and in related disorders.
Nagatsu T et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2019
The quaternary structure of human tyrosine hydroxylase: effects of dystonia-associated missense variants on oligomeric state and enzyme activity.
Szigetvari PD et al.
Journal of Neurochemistry, 2019
Tyrosine and tryptophan hydroxylases as therapeutic targets in human disease.
Waløen K et al.
Expert Opinion on Therapeutic Targets, 2017
A new knock-in mouse model of l-DOPA-responsive dystonia.
Rose SJ et al.
Brain : a Journal of Neurology, 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
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
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
Møller LB et al.
Prenatal Diagnosis, 2005
Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.
Royo M et al.
Proteins, 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
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy.
Grattan-Smith PJ et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2002
EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.
Gasser T et al.
European Journal of Neurology, 2001
Exon 3 of tyrosine hydroxylase gene: lack of association with Japanese schizophrenic patients.
Ota M et al.
Molecular Psychiatry, 2001
Genetics of movement disorders: an abbreviated overview.
Thyagarajan D
Stereotactic and Functional Neurosurgery, 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
Intersubunit binding domains within tyrosine hydroxylase and tryptophan hydroxylase.
Yohrling GJ et al.
Journal of Neuroscience Research, 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
Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain.
Augood SJ et al.
Annals of Neurology, 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
Phenotypic variability of the DYT1 mutation in German dystonia patients.
Leube B et al.
Acta Neurologica Scandinavica, 1999
[The relation between metabolism of biopterin and dystonia-parkinsonism].
Ichinose H et al.
Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 1999
Molecular biology of catecholamine-related enzymes in relation to Parkinson's disease.
Nagatsu T et al.
Cellular and Molecular Neurobiology, 1999
Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.
Nagatsu T et al.
Molecular Neurobiology, 1999
GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness.
Robinson R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Expression of the early-onset torsion dystonia gene (DYT1) in human brain.
Augood SJ et al.
Annals of Neurology, 1998
Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.
Tamaru Y et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p.
Leube B et al.
Annals of Neurology, 1997
Advances in the genetics of movement disorders: implications for molecular diagnosis.
Gasser T
Journal of Neurology, 1997
[Hereditary progressive dystonia with marked diurnal fluctuation--clinical features and GTP cyclohydrolase I gene mutations].
Tamaru Y et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution.
Leube B et al.
Human Molecular Genetics, 1996