Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
4a-hydroxytetrahydrobiopterin dehydratase deficiency
International database of tetrahydrobiopterin deficiencies.
6,7-dihydropteridine reductase deficiency
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
6,7-dihydropteridine reductase deficiency
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
6,7-dihydropteridine reductase deficiency
Differential diagnosis of tetrahydrobiopterin deficiency.
6,7-dihydropteridine reductase deficiency
International database of tetrahydrobiopterin deficiencies.
6,7-dihydropteridine reductase deficiency
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
6-pyruvoyltetrahydropterin synthase deficiency
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
6-pyruvoyltetrahydropterin synthase deficiency
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
6-pyruvoyltetrahydropterin synthase deficiency
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
6-pyruvoyltetrahydropterin synthase deficiency
International database of tetrahydrobiopterin deficiencies.
6-pyruvoyltetrahydropterin synthase deficiency
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Acute Kidney Injury
Endotoxemia-related acute kidney injury in transgenic mice with endothelial overexpression of GTP cyclohydrolase-1.
Albuminuria
Maintenance of endothelial guanosine triphosphate cyclohydrolase I ameliorates diabetic nephropathy.
Anemia
Recent progress in gene therapy for Parkinson's disease.
Apraxias
[Visual child neurology]
Arthritis
Induction of inducible nitric oxide synthase, argininosuccinate synthase, and GTP cyclohydrolase I in arthritic joints of human tumor necrosis factor-alpha transgenic mice.
Arthritis, Juvenile
Juvenile Arthritis Patients Suffering from Chronic Inflammation Have Increased Activity of Both IDO and GTP-CH1 Pathways But Decreased BH4 Efficacy: Implications for Well-Being, Including Fatigue, Cognitive Impairment, Anxiety, and Depression.
Ataxia
[Visual child neurology]
Atherosclerosis
Apolipoprotein A-I mimetic peptide inhibits atherosclerosis by increasing tetrahydrobiopterin via regulation of GTP-cyclohydrolase 1 and reducing uncoupled endothelial nitric oxide synthase activity.
Atherosclerosis
CCR2-mediated antiinflammatory effects of endothelial tetrahydrobiopterin inhibit vascular injury-induced accelerated atherosclerosis.
Atherosclerosis
Endothelial GTPCH in eNOS uncoupling and atherosclerosis.
Atherosclerosis
Increased endothelial tetrahydrobiopterin synthesis by targeted transgenic GTP-cyclohydrolase I overexpression reduces endothelial dysfunction and atherosclerosis in ApoE-knockout mice.
Atherosclerosis
Increased vascular biosynthesis of tetrahydrobiopterin in apolipoprotein E-deficient mice.
Atherosclerosis
Induction of vascular GTP-cyclohydrolase I and endogenous tetrahydrobiopterin synthesis protect against inflammation-induced endothelial dysfunction in human atherosclerosis.
Atherosclerosis
Nicotine induces endothelial dysfunction and promotes atherosclerosis via GTPCH1.
Atherosclerosis
The protein partners of GTP cyclohydrolase I in rat organs.
Bone Resorption
Mechanism and role of nitric oxide signaling in periodontitis.
Breast Neoplasms
Paracrine effect of GTP cyclohydrolase and angiopoietin-1 interaction in stromal fibroblasts on tumor Tie2 activation and breast cancer growth.
Carcinogenesis
Roles of tetrahydrobiopterin in promoting tumor angiogenesis.
Carcinoma
Tetrahydrobiopterin biosynthetic activities in human macrophages, fibroblasts, THP-1, and T 24 cells. GTP-cyclohydrolase I is stimulated by interferon-gamma, and 6-pyruvoyl tetrahydropterin synthase and sepiapterin reductase are constitutively present.
Cardiomyopathy, Dilated
Suppressed expression of GTP cyclohydrolase I mRNA and accelerated expression of inducible nitric oxide synthase mRNA in endomyocardial biopsy specimens from patients with dilated cardiomyopathy.
Cardiovascular Diseases
17beta-estradiol antagonizes the down-regulation of endothelial nitric-oxide synthase and GTP cyclohydrolase I by high glucose: relevance to postmenopausal diabetic cardiovascular disease.
Cataract
The enzymatic activities of GTP cyclohydrolase, sepiapterin reductase, dihydropteridine reductase and dihydrofolate reductase; and tetrahydrobiopterin content in mammalian ocular tissues and in human senile cataracts.
Cerebral Infarction
Inhibition of brain GTP cyclohydrolase I and tetrahydrobiopterin attenuates cerebral infarction via reducing inducible NO synthase and peroxynitrite in ischemic stroke.
Choriocarcinoma
Establishment and characterization of a subline predisposed to pulmonary metastasis from a human gestational choriocarcinoma cell line in nude mice.
Choriocarcinoma
Expression of constitutively active c-MET receptor in human choriocarcinoma.
Choriocarcinoma
Garlic can induce both GTP cyclohydrolase and nitric oxide synthase activity in choriocarcinoma cells.
Choriocarcinoma
Lack of effective messenger RNA for beta 2-microglobulin in a gestational human choriocarcinoma cell line (GCH-1).
Choriocarcinoma
[Dynamics of various peptide hormone receptors in human placental cell membranes]
Choriocarcinoma
[Effects of various growth factors on the growth of trophoblast cells in long-term culture]
Choriocarcinoma
[Establishment and characterization of a cell line [GCH-1 (m)] highly metastasizing to the lung in nude mice]
Choriocarcinoma
[Establishment of methotrexate-resistant human gestational choriocarcinoma cells in culture and analysis of mechanism of resistance]
Choriocarcinoma
[Inhibitory effects of OK-432 and PSK on cell growth of in vitro human choriocarcinoma cell lines]
Choriocarcinoma
[Low susceptibility of choriocarcinoma cell lines to lymphokine activated killer (LAK) cells]
Choriocarcinoma
[Studies on HLA-class I and class II antigen expression in cultured choriocarcinoma cell lines]
Choriocarcinoma, Non-gestational
[Studies on HLA-class I and class II antigen expression in cultured choriocarcinoma cell lines]
Diabetes Mellitus
AT1-receptor blockade by telmisartan upregulates GTP-cyclohydrolase I and protects eNOS in diabetic rats.
Diabetes Mellitus
GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus.
Diabetes Mellitus
Non-Covalent Interaction between Polyubiquitin and GTP Cyclohydrolase 1 Dictates Its Degradation.
Diabetes Mellitus
Proteasome-dependent degradation of guanosine 5'-triphosphate cyclohydrolase I causes tetrahydrobiopterin deficiency in diabetes mellitus.
Diabetes Mellitus, Type 1
GTP Cyclohydrolase I Prevents Diabetic Impaired Endothelial Progenitor Cells and Wound Healing by Suppressing Oxidative Stress/Thrombospondin-1.
Diabetes Mellitus, Type 2
GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus.
Diabetic Cardiomyopathies
Cardiomyocyte GTP Cyclohydrolase 1 Protects the Heart Against Diabetic Cardiomyopathy.
Diabetic Nephropathies
Maintenance of endothelial guanosine triphosphate cyclohydrolase I ameliorates diabetic nephropathy.
Dyskinesias
A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene.
Dyskinesias
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.
Dyskinesias
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.
Dyskinesias
Nurr1:RXR? heterodimer activation as monotherapy for Parkinson's disease.
Dyskinesias
Reversal of dyskinesias in an animal model of Parkinson's disease by continuous L-DOPA delivery using rAAV vectors.
Dystonia
A Case of GCH-1 Mutation Dopa-Responsive Dystonia Requiring High Doses of Levodopa for Treatment.
Dystonia
A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene - Segawa disease.
Dystonia
A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.
Dystonia
A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease).
Dystonia
A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia.
Dystonia
A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.
Dystonia
A novel missense mutation in GCH1 gene in a Korean family with Segawa disease.
Dystonia
A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes dopa-responsive dystonia in Chinese Han population.
Dystonia
A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.
Dystonia
A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia.
Dystonia
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.
Dystonia
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.
Dystonia
A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia.
Dystonia
A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia.
Dystonia
A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia.
Dystonia
A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.
Dystonia
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.
Dystonia
Advanced research on dopamine signaling to develop drugs for the treatment of mental disorders: regulation of dopaminergic neural transmission by tyrosine hydroxylase protein at nerve terminals.
Dystonia
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.
Dystonia
An unusual presentation of tyrosine hydroxylase deficiency.
Dystonia
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
Dystonia
Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
Dystonia
Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.
Dystonia
Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
Dystonia
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
Dystonia
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
Dystonia
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
Dystonia
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.
Dystonia
Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.
Dystonia
Clinical and molecular genetics of primary dystonias.
Dystonia
Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.
Dystonia
Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation.
Dystonia
Diagnosis and treatment of neurotransmitter-related disorders.
Dystonia
Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia.
Dystonia
Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.
Dystonia
Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene.
Dystonia
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
Dystonia
Dopa-responsive dystonia and Tourette syndrome in a large Danish family.
Dystonia
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.
Dystonia
Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.
Dystonia
Dopa-responsive Dystonia in Children.
Dystonia
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
Dystonia
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.
Dystonia
Dopa-responsive dystonia is induced by a dominant-negative mechanism.
Dystonia
Dopa-responsive dystonia.
Dystonia
Dopa-responsive dystonia: a clinical and molecular genetic study.
Dystonia
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.
Dystonia
Dystonia-plus syndromes.
Dystonia
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
Dystonia
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.
Dystonia
Endothelial, Sympathetic and Cardiac Function in Inherited 6R-L-erythro-5,6,7,8-tetrahydro-L-biopterin Deficiency.
Dystonia
Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.
Dystonia
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
Dystonia
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
Dystonia
Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.
Dystonia
GCH1 in early-onset Parkinson's disease.
Dystonia
GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.
Dystonia
GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
Dystonia
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
Dystonia
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.
Dystonia
Gene symbol: GTP cyclohydrolase I (GCH-I). Disease: dopa-responsive dystonia.
Dystonia
Genetic mutations that prevent pain: implications for future pain medication.
Dystonia
Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.
Dystonia
Genetics in dystonia.
Dystonia
Genetics of pain, opioids, and opioid responsiveness.
Dystonia
Genetics of primary dystonia.
Dystonia
Growth Hormone Deficiency in a Dopa-Responsive Dystonia Patient With a Novel Mutation of Guanosine Triphosphate Cyclohydrolase 1 Gene.
Dystonia
GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia.
Dystonia
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
Dystonia
GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.
Dystonia
GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.
Dystonia
GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.
Dystonia
GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.
Dystonia
GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.
Dystonia
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.
Dystonia
Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
Dystonia
Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.
Dystonia
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
Dystonia
Hereditary progressive dystonia with marked diurnal fluctuation.
Dystonia
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
Dystonia
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
Dystonia
Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein.
Dystonia
Human tyrosine hydroxylase in Parkinson's disease and in related disorders.
Dystonia
Influence of development and aging on brain biopterin: implications for dopa-responsive dystonia onset.
Dystonia
Intracortical inhibition of the motor cortex in Segawa disease (DYT5).
Dystonia
Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?
Dystonia
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
Dystonia
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.
Dystonia
Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.
Dystonia
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
Dystonia
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
Dystonia
Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia.
Dystonia
Molecular genetics of hereditary dystonia--mutations in the GTP cyclohydrolase I gene.
Dystonia
Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.
Dystonia
Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
Dystonia
Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster.
Dystonia
Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family.
Dystonia
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Dystonia
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Dystonia
Myoclonus-dystonia syndrome.
Dystonia
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
Dystonia
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.
Dystonia
Nonmotor Symptoms in Dopa-Responsive Dystonia.
Dystonia
Normal values and age-dependent changes in GTP cyclohydrolase I activity in stimulated mononuclear blood cells measured by high-performance liquid chromatography.
Dystonia
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.
Dystonia
Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.
Dystonia
Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.
Dystonia
Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.
Dystonia
Older-onset levodopa-responsive parkinsonism with normal DAT-SPECT and pterin hypometabolism.
Dystonia
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
Dystonia
Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.
Dystonia
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
Dystonia
Rat GTP cyclohydrolase I is a homodecameric protein complex containing high-affinity calcium-binding sites.
Dystonia
Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia.
Dystonia
Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene.
Dystonia
Stimulation of the brain NO/cyclic GMP pathway by peripheral administration of tetrahydrobiopterin in the hph-1 mouse.
Dystonia
Structural basis of biopterin-induced inhibition of GTP cyclohydrolase I by GFRP, its feedback regulatory protein.
Dystonia
Tetrahydrobiopterin and biogenic amine metabolism in the hph-1 mouse.
Dystonia
Tetrahydrobiopterin metabolism and GTP cyclohydrolase I mutations in L-dopa-responsive dystonia.
Dystonia
The effect of GTP cyclohydrolase-1 on tyrosine hydroxylase expression: implications in DOPA-responsive dystonia.
Dystonia
The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia.
Dystonia
The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study.
Dystonia
The neurophysiology of dystonia.
Dystonia
Transcranial sonography in dopa-responsive dystonia.
Dystonia
Two in the hand, an essential lesson in tremor management.
Dystonia
Two novel mutations of the GTP cyclohydrolase I gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.
Dystonia
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
Dystonia
Uneventful Electroconvulsive Therapy in a Patient With Dopa-Responsive Dystonia (Segawa Syndrome).
Dystonia
Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.
Dystonia
Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
Dystonia
[Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene]
Dystonia
[Biopterin and child neurologic disease]
Dystonia
[Dopa-responsive dystonia: clinical, genetic, and biochemical studies]
Dystonia
[Genetics of dystonia]
Dystonia
[GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia.]
Dystonia
[Hereditary progressive dystonia with marked diurnal fluctuation--clinical features and GTP cyclohydrolase I gene mutations]
Dystonia
[Hereditary progressive dystonia with marked diurnal fluctuation; dominant Dopa-responsive dystonia linked to GTP cyclohydrolase I gene (HPD/DRD); Segawa's disease]
Dystonia
[Molecular biology of hereditary dystonia]
Dystonia
[Molecular genetics of hereditary progressive dystonia (HPD/Segawa's disease)]
Dystonia
[Molecular mechanisms of neurotransmission]
Dystonia
[Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia]
Dystonia
[Visual child neurology]
Dystonia Musculorum Deformans
Clinical and molecular genetic evaluation of patients with primary dystonia.
Dystonia Musculorum Deformans
Clinical and molecular genetics of primary dystonias.
Dystonia Musculorum Deformans
Dopa-responsive dystonia: a clinical and molecular genetic study.
Dystonia Musculorum Deformans
Genetics of primary dystonia.
Dystonia Musculorum Deformans
GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.
Dystonia Musculorum Deformans
[Genetics of dystonia]
Dystonic Disorders
[GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia.]
Endotoxemia
Change in expression of the guanosine triphosphate cyclohydrolase I in LPS-stimulated rats is tissue specific.
Endotoxemia
Expression of nitric oxide synthases and GTP cyclohydrolase I in the ventilatory and limb muscles during endotoxemia.
Enteritis
Ionizing radiation induces BH4 deficiency by downregulating GTP-cyclohydrolase 1, a novel target for preventing and treating radiation enteritis.
Equine Infectious Anemia
Recent progress in gene therapy for Parkinson's disease.
Fibromyalgia
Association of Guanosine Triphosphate Cyclohydrolase 1 Gene Polymorphisms with Fibromyalgia Syndrome in a Korean Population.
Gastroparesis
In vivo ultrasound assessment of gastric emptying in newborn mice.
Genetic Diseases, Inborn
Normal values and age-dependent changes in GTP cyclohydrolase I activity in stimulated mononuclear blood cells measured by high-performance liquid chromatography.
Genetic Diseases, Inborn
Tyrosine hydroxylase (TH), its cofactor tetrahydrobiopterin (BH4), other catecholamine-related enzymes, and their human genes in relation to the drug and gene therapies of Parkinson's disease (PD): historical overview and future prospects.
Glioblastoma
Reactive Species Balance via GTP Cyclohydrolase I Regulates Glioblastoma Growth and Tumor Initiating Cell Maintenance.
Glioma
Involvement of sphingosine kinase in TNF-alpha-stimulated tetrahydrobiopterin biosynthesis in C6 glioma cells.
Glioma
Tetrahydrobiopterin biosynthesis in C6 glioma cells: induction of GTP cyclohydrolase I gene expression by lipopolysaccharide and cytokine treatment.
Gliosarcoma
In vivo L-DOPA production by genetically modified primary rat fibroblast or 9L gliosarcoma cell grafts via coexpression of GTPcyclohydrolase I with tyrosine hydroxylase.
gtp cyclohydrolase i deficiency
A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program.
gtp cyclohydrolase i deficiency
A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene - Segawa disease.
gtp cyclohydrolase i deficiency
A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency.
gtp cyclohydrolase i deficiency
A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
gtp cyclohydrolase i deficiency
A requirement for Gch1 and tetrahydrobiopterin in embryonic development.
gtp cyclohydrolase i deficiency
Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient mice.
gtp cyclohydrolase i deficiency
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.
gtp cyclohydrolase i deficiency
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
gtp cyclohydrolase i deficiency
An unusual presentation of tyrosine hydroxylase deficiency.
gtp cyclohydrolase i deficiency
Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.
gtp cyclohydrolase i deficiency
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
gtp cyclohydrolase i deficiency
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
gtp cyclohydrolase i deficiency
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
gtp cyclohydrolase i deficiency
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
gtp cyclohydrolase i deficiency
Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency.
gtp cyclohydrolase i deficiency
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.
gtp cyclohydrolase i deficiency
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.
gtp cyclohydrolase i deficiency
Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency.
gtp cyclohydrolase i deficiency
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
gtp cyclohydrolase i deficiency
Diagnosing dopamine-responsive dystonias.
gtp cyclohydrolase i deficiency
Diagnosis and treatment of neurotransmitter-related disorders.
gtp cyclohydrolase i deficiency
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
gtp cyclohydrolase i deficiency
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
gtp cyclohydrolase i deficiency
Differential diagnosis of tetrahydrobiopterin deficiency.
gtp cyclohydrolase i deficiency
Disorders of biopterin metabolism.
gtp cyclohydrolase i deficiency
Dopa-responsive Dystonia in Children.
gtp cyclohydrolase i deficiency
Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.
gtp cyclohydrolase i deficiency
Dopa-responsive dystonia--clinical and genetic heterogeneity.
gtp cyclohydrolase i deficiency
Dopa-responsive dystonia: a clinical and molecular genetic study.
gtp cyclohydrolase i deficiency
Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency.
gtp cyclohydrolase i deficiency
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
gtp cyclohydrolase i deficiency
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.
gtp cyclohydrolase i deficiency
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
gtp cyclohydrolase i deficiency
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
gtp cyclohydrolase i deficiency
GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness.
gtp cyclohydrolase i deficiency
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
gtp cyclohydrolase i deficiency
GTP cyclohydrolase I expression, protein, and activity determine intracellular tetrahydrobiopterin levels, independent of GTP cyclohydrolase feedback regulatory protein expression.
gtp cyclohydrolase i deficiency
GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report.
gtp cyclohydrolase i deficiency
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.
gtp cyclohydrolase i deficiency
Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
gtp cyclohydrolase i deficiency
Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.
gtp cyclohydrolase i deficiency
Hereditary progressive dystonia with marked diurnal fluctuation.
gtp cyclohydrolase i deficiency
High-cholesterol Diet Augments Endothelial Dysfunction via Elevated Oxidative Stress and Reduced BH(4) in Ins2(Akita) Mice, an Autosomal Dominant Mutant Type 1 Diabetic Model.
gtp cyclohydrolase i deficiency
Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency.
gtp cyclohydrolase i deficiency
International database of tetrahydrobiopterin deficiencies.
gtp cyclohydrolase i deficiency
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
gtp cyclohydrolase i deficiency
Monoamine neurotransmitter deficiencies.
gtp cyclohydrolase i deficiency
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
gtp cyclohydrolase i deficiency
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
gtp cyclohydrolase i deficiency
Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency.
gtp cyclohydrolase i deficiency
Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.
gtp cyclohydrolase i deficiency
Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies.
gtp cyclohydrolase i deficiency
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
gtp cyclohydrolase i deficiency
Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).
gtp cyclohydrolase i deficiency
Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts.
gtp cyclohydrolase i deficiency
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse.
gtp cyclohydrolase i deficiency
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
gtp cyclohydrolase i deficiency
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
gtp cyclohydrolase i deficiency
Uneventful Electroconvulsive Therapy in a Patient With Dopa-Responsive Dystonia (Segawa Syndrome).
gtp cyclohydrolase i deficiency
[Autosomal recessive GTPCH 1 deficiency: the importance of the analysis of neurotransmitters in cerebrospinal fluid].
gtp cyclohydrolase i deficiency
[Biopterin and child neurologic disease]
gtp cyclohydrolase i deficiency
[Molecular mechanisms of neurotransmission]
Herpes Simplex
Coexpression of tyrosine hydroxylase, GTP cyclohydrolase I, aromatic amino acid decarboxylase, and vesicular monoamine transporter 2 from a helper virus-free herpes simplex virus type 1 vector supports high-level, long-term biochemical and behavioral correction of a rat model of Parkinson's disease.
HIV Infections
Indoleamine-2, 3-dioxygenase and other interferon-gamma-mediated pathways in patients with human immunodeficiency virus infection.
Hyperalgesia
Nitric Oxide in the Spinal Cord Is Involved in the Hyperalgesia Induced by Tetrahydrobiopterin in Chronic Restraint Stress Rats.
Hyperalgesia
Reduced hyperalgesia in homozygous carriers of a GTP cyclohydrolase 1 haplotype.
Hypercholesterolemia
Apolipoprotein A-I mimetic peptide inhibits atherosclerosis by increasing tetrahydrobiopterin via regulation of GTP-cyclohydrolase 1 and reducing uncoupled endothelial nitric oxide synthase activity.
Hyperglycemia
Berberine suppresses the ectopic expression of miR-133a in endothelial cells to improve vascular dementia in diabetic rats.
Hypersensitivity
Evidence of a role for GTP cyclohydrolase-1 in visceral pain.
Hypertension
Animal models of hypertension.
Hypertension
Endothelium-specific GTP cyclohydrolase I overexpression attenuates blood pressure progression in salt-sensitive low-renin hypertension.
Hypertension
Gene transfer of human guanosine 5'-triphosphate cyclohydrolase I restores vascular tetrahydrobiopterin level and endothelial function in low renin hypertension.
Hypertension
Glucocorticoids inhibit tetrahydrobiopterin-dependent endothelial function.
Hypertension
GTP cyclohydrolase 1 downregulation contributes to glucocorticoid hypertension in rats.
Hypertension
GTP cyclohydrolase I/BH4 pathway protects EPCs via suppressing oxidative stress and thrombospondin-1 in salt-sensitive hypertension.
Hypertension
Non-Covalent Interaction between Polyubiquitin and GTP Cyclohydrolase 1 Dictates Its Degradation.
Hypertension
Oxidative Stress, GTPCH1, and Endothelial Nitric Oxide Synthase Uncoupling in Hypertension.
Hypertension
The protein partners of GTP cyclohydrolase I in rat organs.
Hypertension
Tyrosine nitration of PA700 activates the 26S proteasome to induce endothelial dysfunction in mice with angiotensin II-induced hypertension.
Hypertension, Pulmonary
Pivotal role for endothelial tetrahydrobiopterin in pulmonary hypertension.
Hypertension, Pulmonary
Pulmonary hypertension in the newborn GTP cyclohydrolase I-deficient mouse.
Hypoalbuminemia
[Visual child neurology]
Hypotension
Endothelial cell tetrahydrobiopterin deficiency attenuates LPS-induced vascular dysfunction and hypotension.
Hypotension
Glucocorticoid regulation of nitric oxide and tetrahydrobiopterin in a rat model of endotoxic shock.
Infections
Attenuation of biopterin synthesis prevents Escherichia coli K1 invasion of brain endothelial cells and the development of meningitis in newborn mice.
Infections
Structure of GTP cyclohydrolase I from Listeria monocytogenes, a potential anti-infective drug target.
Intervertebral Disc Degeneration
Polymorphic variation of the guanosine triphosphate cyclohydrolase 1 gene predicts outcome in patients undergoing surgical treatment for lumbar degenerative disc disease.
Iron Deficiencies
Current Understanding of the Mechanisms Underlying Immune Evasion From PD-1/PD-L1 Immune Checkpoint Blockade in Head and Neck Cancer.
Ischemic Stroke
GTP cyclohydrolase 1 gene 3'-UTR C+243T variant predicts worsening outcome in patients with first-onset ischemic stroke.
Ischemic Stroke
Inhibition of brain GTP cyclohydrolase I and tetrahydrobiopterin attenuates cerebral infarction via reducing inducible NO synthase and peroxynitrite in ischemic stroke.
Lesch-Nyhan Syndrome
GTP cyclohydrolase I feedback regulatory protein-dependent and -independent inhibitors of GTP cyclohydrolase I.
Leukemia
Biosynthesis and metabolism of pterins in peripheral blood mononuclear cells and leukemia lines of man and mouse.
Leukemia
Characterization of GTP cyclohydrolase I gene expression in the human neuroblastoma SKN-BE(2)M17: enhanced transcription in response to cAMP is conferred by the proximal promoter.
Leukemia
Regulation of GTP cyclohydrolase I gene expression and tetrahydrobiopterin content in cultured sympathetic neurons by leukemia inhibitory factor and ciliary neurotrophic factor.
Leukemia, Erythroblastic, Acute
Effects of depletion of intracellular tetrahydrobiopterin in murine erythroleukemia cells.
Listeriosis
Structure of GTP cyclohydrolase I from Listeria monocytogenes, a potential anti-infective drug target.
Malaria
Guanosine triphosphate cyclohydrolase in Plasmodium falciparum and other Plasmodium species.
Malaria
Plasmodium falciparum: Effect of antimalarial drugs, malaria pigment (?-haematin) and Plasmodium falciparum lysate on monocyte GTP-cyclohydrolase 1 gene expression.
Metabolic Diseases
A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
Metabolic Diseases
Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies.
Metabolic Syndrome
Time-of-Day-Dependent Effects of Bromocriptine to Ameliorate Vascular Pathology and Metabolic Syndrome in SHR Rats Held on High Fat Diet.
Metabolism, Inborn Errors
Stimulation of the brain NO/cyclic GMP pathway by peripheral administration of tetrahydrobiopterin in the hph-1 mouse.
methenyltetrahydrofolate cyclohydrolase deficiency
Diagnosing dopamine-responsive dystonias.
methenyltetrahydrofolate cyclohydrolase deficiency
Uneventful Electroconvulsive Therapy in a Patient With Dopa-Responsive Dystonia (Segawa Syndrome).
Movement Disorders
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
Movement Disorders
Endothelial, Sympathetic and Cardiac Function in Inherited 6R-L-erythro-5,6,7,8-tetrahydro-L-biopterin Deficiency.
Movement Disorders
Growth Hormone Deficiency in a Dopa-Responsive Dystonia Patient With a Novel Mutation of Guanosine Triphosphate Cyclohydrolase 1 Gene.
Movement Disorders
Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism.
Muscle Hypotonia
Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.
Muscle Hypotonia
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.
Muscle Hypotonia
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
Muscle Spasticity
Differences in the metabolism of the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in mutant mice with neurological and immunological defects.
Myocardial Infarction
Isoflurane favorably modulates guanosine triphosphate cyclohydrolase-1 and endothelial nitric oxide synthase during myocardial ischemia and reperfusion injury in rats.
Myocardial Infarction
Transgenic overexpression of GTP cyclohydrolase 1 in cardiomyocytes ameliorates post-infarction cardiac remodeling.
Myocardial Ischemia
The protein partners of GTP cyclohydrolase I in rat organs.
Myoclonus
Myoclonus-dystonia syndrome.
Neoplasm Metastasis
Establishment and characterization of a subline predisposed to pulmonary metastasis from a human gestational choriocarcinoma cell line in nude mice.
Neoplasm Metastasis
[Establishment and characterization of a cell line [GCH-1 (m)] highly metastasizing to the lung in nude mice]
Neoplasms
A GTP cyclohydrolase 1 genetic variant delays cancer pain.
Neoplasms
Author's reply to Kapoor S. GTP cyclohydrolase and cancer pain.
Neoplasms
Biochemistry and function of pteridine synthesis in human and murine macrophages.
Neoplasms
Coordinated induction of inducible nitric oxide synthase and GTP-cyclohydrolase I is dependent on inflammatory cytokines and interferon-gamma in HaCaT keratinocytes: implications for the model of cutaneous wound repair.
Neoplasms
Current Understanding of the Mechanisms Underlying Immune Evasion From PD-1/PD-L1 Immune Checkpoint Blockade in Head and Neck Cancer.
Neoplasms
Cytokine-stimulated GTP cyclohydrolase I expression in endothelial cells requires coordinated activation of nuclear factor-kappaB and Stat1/Stat3.
Neoplasms
Cytokines stimulate GTP cyclohydrolase I gene expression in cultured human umbilical vein endothelial cells.
Neoplasms
Divergence in regulation of nitric-oxide synthase and its cofactor tetrahydrobiopterin by tumor necrosis factor-alpha. Ceramide potentiates nitric oxide synthesis without affecting GTP cyclohydrolase I activity.
Neoplasms
Downregulation of tetrahydrobiopterin inhibits tumor angiogenesis in BALB/c-nu mice with hepatocellular carcinoma.
Neoplasms
Enhanced activation of NAD(P)H: quinone oxidoreductase 1 attenuates spontaneous hypertension by improvement of endothelial nitric oxide synthase coupling via tumor suppressor kinase liver kinase B1/adenosine 5'-monophosphate-activated protein kinase-mediated guanosine 5'-triphosphate cyclohydrolase 1 preservation.
Neoplasms
Evolving role of GTP cyclohydrolase 1 inhibition in mitigating cancer pain besides its role in attenuating tumor growth.
Neoplasms
GTP cyclohydrolase I is coinduced in hepatocytes stimulated to produce nitric oxide.
Neoplasms
HMG-CoA reductase inhibitor increases GTP cyclohydrolase I mRNA and tetrahydrobiopterin in vascular endothelial cells.
Neoplasms
Impact of tumour necrosis factor-alpha and interferon-gamma on tetrahydrobiopterin synthesis in murine fibroblasts and macrophages.
Neoplasms
Increased GTP cyclohydrolase activity promotes tumor growth.
Neoplasms
Induction of inducible nitric oxide synthase, argininosuccinate synthase, and GTP cyclohydrolase I in arthritic joints of human tumor necrosis factor-alpha transgenic mice.
Neoplasms
Inhibition of GTP cyclohydrolase attenuates tumor growth by reducing angiogenesis and M2-like polarization of tumor associated macrophages.
Neoplasms
Inhibition of GTP cyclohydrolase reduces cancer pain in mice and enhances analgesic effects of morphine.
Neoplasms
Involvement of sphingosine kinase in TNF-alpha-stimulated tetrahydrobiopterin biosynthesis in C6 glioma cells.
Neoplasms
Paracrine effect of GTP cyclohydrolase and angiopoietin-1 interaction in stromal fibroblasts on tumor Tie2 activation and breast cancer growth.
Neoplasms
Protein kinase C phosphorylates and activates GTP cyclohydrolase I in rat renal mesangial cells.
Neoplasms
Reactive Species Balance via GTP Cyclohydrolase I Regulates Glioblastoma Growth and Tumor Initiating Cell Maintenance.
Neoplasms
Regulation of tetrahydrobiopterin biosynthesis in cultured adrenal cortical tumor cells by adrenocorticotropin and adenosine 3',5'-cyclic monophosphate.
Neoplasms
Regulation of tetrahydrobiopterin synthesis and bioavailability in endothelial cells.
Neoplasms
Roles of tetrahydrobiopterin in promoting tumor angiogenesis.
Neoplasms
Tetrahydrobiopterin and cytokines.
Neoplasms
[Effects of tetrahydrobiopterin on the angiogenesis in hepatocellular carcinoma].
Neoplasms
[The effect of pentoxifylline on endotoxin-induced biopterin formation in rabbits]
Neuralgia
Association of rs3783641 single-nucleotide polymorphism in GTP cyclohydrolase 1 gene with post-herpetic neuralgia.
Neuralgia
Changes of GTP cyclohydrolase I and neuronal apoptosis in rat spinal dorsal cord induced by sciatic nerve injury.
Neuralgia
Effective relief of neuropathic pain by adeno-associated virus-mediated expression of a small hairpin RNA against GTP cyclohydrolase 1.
Neuralgia
Guanosine-5'-triphosphate cyclohydrolase 1 regulated long noncoding RNAs are potential targets for microglial activation in neuropathic pain.
Neuralgia
Recent advances in the pharmacogenomics of pain and headache.
Neuroblastoma
Characterization of GTP cyclohydrolase I gene expression in the human neuroblastoma SKN-BE(2)M17: enhanced transcription in response to cAMP is conferred by the proximal promoter.
Neuroblastoma
Effect of peripherally administered lipopolysaccharide (LPS) on GTP cyclohydrolase I, tetrahydrobiopterin and norepinephrine in the locus coeruleus in mice.
Neuroblastoma
IMP dehydrogenase inhibitors reduce intracellular tetrahydrobiopterin levels through reduction of intracellular GTP levels. Indications of the regulation of GTP cyclohydrolase I activity by restriction of GTP availability in the cells.
Obesity
Obesity alters the peripheral circadian clock in the aorta and microcirculation.
Overweight
Elevated GTP Cyclohydrolase I Pathway in Endothelial Progenitor Cells of Overweight Premenopausal Women.
Pancreatitis
Does the pain-protective GTP cyclohydrolase haplotype significantly alter the pattern or severity of pain in humans with chronic pancreatitis?
Pancreatitis, Chronic
Does the pain-protective GTP cyclohydrolase haplotype significantly alter the pattern or severity of pain in humans with chronic pancreatitis?
Parkinson Disease
Abnormal myocardial scintigraphy in a GTP cyclohydrolase 1 mutation carrier with Parkinson's disease.
Parkinson Disease
Brain transplantation of human neural stem cells transduced with tyrosine hydroxylase and GTP cyclohydrolase 1 provides functional improvement in animal models of Parkinson disease.
Parkinson Disease
Characterization of intrastriatal recombinant adeno-associated virus-mediated gene transfer of human tyrosine hydroxylase and human GTP-cyclohydrolase I in a rat model of Parkinson's disease.
Parkinson Disease
Coexpression of tyrosine hydroxylase, GTP cyclohydrolase I, aromatic amino acid decarboxylase, and vesicular monoamine transporter 2 from a helper virus-free herpes simplex virus type 1 vector supports high-level, long-term biochemical and behavioral correction of a rat model of Parkinson's disease.
Parkinson Disease
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
Parkinson Disease
Dopamine release via the vacuolar ATPase V0 sector c-subunit, confirmed in N18 neuroblastoma cells, results in behavioral recovery in hemiparkinsonian mice.
Parkinson Disease
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
Parkinson Disease
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.
Parkinson Disease
GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia.
Parkinson Disease
GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.
Parkinson Disease
In vivo L-DOPA production by genetically modified primary rat fibroblast or 9L gliosarcoma cell grafts via coexpression of GTPcyclohydrolase I with tyrosine hydroxylase.
Parkinson Disease
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.
Parkinson Disease
Multicistronic lentiviral vector-mediated striatal gene transfer of aromatic L-amino acid decarboxylase, tyrosine hydroxylase, and GTP cyclohydrolase I induces sustained transgene expression, dopamine production, and functional improvement in a rat model of Parkinson's disease.
Parkinson Disease
Older-onset levodopa-responsive parkinsonism with normal DAT-SPECT and pterin hypometabolism.
Parkinson Disease
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Parkinson Disease
Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Parkinson Disease
Study of GCH1 and TH genes in Chinese patients with Parkinson's disease.
Parkinson Disease
Triple transduction with adeno-associated virus vectors expressing tyrosine hydroxylase, aromatic-L-amino-acid decarboxylase, and GTP cyclohydrolase I for gene therapy of Parkinson's disease.
Parkinson Disease
Tyrosine hydroxylase (TH), its cofactor tetrahydrobiopterin (BH4), other catecholamine-related enzymes, and their human genes in relation to the drug and gene therapies of Parkinson's disease (PD): historical overview and future prospects.
Parkinson Disease
[Gene therapy of tyrosine hydroxylase, aromatic L-amino acid decarboxylase, and GTP cyclohydrolase genes in rat model of Parkinson's disease]
Parkinsonian Disorders
A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene.
Parkinsonian Disorders
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
Parkinsonian Disorders
Differences in the metabolism of the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in mutant mice with neurological and immunological defects.
Parkinsonian Disorders
GCH-1 genetic variant may cause Parkinsonism by unmasking the subclinical nigral pathology.
Parkinsonian Disorders
GTP cyclohydrolase I activity in mononuclear blood cells in juvenile parkinsonism.
Parkinsonian Disorders
GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.
Parkinsonian Disorders
GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.
Parkinsonian Disorders
GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.
Parkinsonian Disorders
Older-onset levodopa-responsive parkinsonism with normal DAT-SPECT and pterin hypometabolism.
Parkinsonian Disorders
Parkinsonism in GTP cyclohydrolase 1 mutation carriers.
Parkinsonian Disorders
Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.
Parkinsonian Disorders
The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study.
Phenylketonurias
A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program.
Phenylketonurias
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
Phenylketonurias
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
Phenylketonurias
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
Phenylketonurias
Differences in the metabolism of the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in mutant mice with neurological and immunological defects.
Phenylketonurias
Differential diagnosis of tetrahydrobiopterin deficiency.
Phenylketonurias
Dopa-responsive dystonia: a clinical and molecular genetic study.
Phenylketonurias
Effects of sepiapterin and 6-acetyldihydrohomopterin on the guanosine triphosphate cyclohydrolase I of mouse, rat and the fruit-fly Drosophila.
Phenylketonurias
Endothelial, Sympathetic and Cardiac Function in Inherited 6R-L-erythro-5,6,7,8-tetrahydro-L-biopterin Deficiency.
Phenylketonurias
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
Phenylketonurias
Gene transfer of human guanosine 5'-triphosphate cyclohydrolase I restores vascular tetrahydrobiopterin level and endothelial function in low renin hypertension.
Phenylketonurias
GTP cyclohydrolase I gene transfer reverses tetrahydrobiopterin deficiency and increases nitric oxide synthesis in endothelial cells and isolated vessels from diabetic rats.
Phenylketonurias
Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.
Phenylketonurias
International database of tetrahydrobiopterin deficiencies.
Phenylketonurias
Ionizing radiation induces BH4 deficiency by downregulating GTP-cyclohydrolase 1, a novel target for preventing and treating radiation enteritis.
Phenylketonurias
Molecular characterization of HPH-1: a mouse mutant deficient in GTP cyclohydrolase I activity.
Phenylketonurias
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Phenylketonurias
Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.
Phenylketonurias
Proteasome-dependent degradation of guanosine 5'-triphosphate cyclohydrolase I causes tetrahydrobiopterin deficiency in diabetes mellitus.
Phenylketonurias
Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies.
Phenylketonurias
Quantitative regulation of intracellular endothelial nitric-oxide synthase (eNOS) coupling by both tetrahydrobiopterin-eNOS stoichiometry and biopterin redox status: insights from cells with tet-regulated GTP cyclohydrolase I expression.
Phenylketonurias
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Phenylketonurias
Tetrahydrobiopterin and biogenic amine metabolism in the hph-1 mouse.
Phenylketonurias
Tetrahydrobiopterin and inherited hyperphenylalaninemias.
Phenylketonurias
Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states.
Phenylketonurias
Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts.
Phenylketonurias
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Phenylketonurias
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse.
Phenylketonurias
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
Phenylketonurias
Tyrosine nitration of PA700 activates the 26S proteasome to induce endothelial dysfunction in mice with angiotensin II-induced hypertension.
Phenylketonurias
[Atypical phenylketonuria treatment effectiveness]
Phenylketonurias
[Biopterin and child neurologic disease]
Pheochromocytoma
IMP dehydrogenase inhibitors reduce intracellular tetrahydrobiopterin levels through reduction of intracellular GTP levels. Indications of the regulation of GTP cyclohydrolase I activity by restriction of GTP availability in the cells.
Pheochromocytoma
Isolation of a full-length cDNA clone for human GTP cyclohydrolase I type 1 from pheochromocytoma.
Pheochromocytoma
Regulation of GTP cyclohydrolase I and dihydropteridine reductase in rat pheochromocytoma PC 12 cells.
Pheochromocytoma
Simultaneous determination of GTP cyclohydrolase activity and biopterin content in pheochromocytoma PC12h cells.
Pheochromocytoma
[Effect of dibutyryl cyclic AMP on the GTP cyclohydrolase activity and tetrahydrobiopterin content of pheochromocytoma PC12h cells]
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Localization of GTP cyclohydrolase I in human peripheral blood smears using a specific monoclonal antibody and an immune-alkaline phosphatase labeling technique.
Proteinuria
Decrease in tetrahydrobiopterin as a possible cause of nephropathy in type II diabetic rats.
Radiculopathy
Reduced hyperalgesia in homozygous carriers of a GTP cyclohydrolase 1 haplotype.
Reperfusion Injury
Isoflurane favorably modulates guanosine triphosphate cyclohydrolase-1 and endothelial nitric oxide synthase during myocardial ischemia and reperfusion injury in rats.
Rett Syndrome
[Visual child neurology]
Scoliosis
Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene.
Seizures
Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.
Sepsis
[The protective effects and its underlying mechanism of 2,4-diamino-6-hydroxy-pyrimidine on postburn Staphylococcus aureus sepsis in rats]
Shock, Septic
Overexpression of GTP cyclohydrolase 1 feedback regulatory protein is protective in a murine model of septic shock.
Starvation
Control of 6-(D-threo-1',2'-dihydroxypropyl) pterin (dictyopterin) synthesis during aggregation of Dictyostelium discoideum. Involvement of the G-protein-linked signalling pathway in the regulation of GTP cyclohydrolase I activity.
Starvation
Zinc-Independent Folate Biosynthesis: Genetic, Biochemical, and Structural Investigations Reveal New Metal Dependence for GTP Cyclohydrolase IB.
Tourette Syndrome
[Visual child neurology]
Tremor
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
Trigeminal Neuralgia
Polymorphisms of Nav1.6 sodium channel, Brain-derived Neurotrophic Factor, Catechol-O-methyltransferase and Guanosine Triphosphate Cyclohydrolase 1 genes in trigeminal neuralgia.
Tuberculosis
Comprehensive analysis of GTP cyclohydrolase I activity in Mycobacterium tuberculosis H37 Rv via in silico studies.
Turner Syndrome
Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene.
tyrosine 3-monooxygenase deficiency
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.
tyrosine 3-monooxygenase deficiency
Diagnosing dopamine-responsive dystonias.
Vascular Diseases
Cytokine-stimulated GTP cyclohydrolase I expression in endothelial cells requires coordinated activation of nuclear factor-kappaB and Stat1/Stat3.
Vitamin E Deficiency
Myoclonus-dystonia syndrome.
Vitiligo
GTP-cyclohydrolase I and vitiligo.
Vitiligo
H(2)O(2) increases de novo synthesis of (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin via GTP cyclohydrolase I and its feedback regulatory protein in vitiligo.
Vitiligo
Mutations in GTP-cyclohydrolase I gene and vitiligo.
Vitiligo
Vitiligo is not caused by mutations in GTP-cyclohydrolase I gene.
Whooping Cough
Sphingosine 1-phosphate inhibits nitric oxide production induced by interleukin-1beta in rat vascular smooth muscle cells.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
Please wait a moment until the data is sorted. This message will disappear when the data is sorted.