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Disease on EC 3.5.4.16 - GTP cyclohydrolase I

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
4a-hydroxytetrahydrobiopterin dehydratase deficiency
International database of tetrahydrobiopterin deficiencies.
6,7-dihydropteridine reductase deficiency
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
Differential diagnosis of tetrahydrobiopterin deficiency.
International database of tetrahydrobiopterin deficiencies.
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.
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
International database of tetrahydrobiopterin deficiencies.
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.
CCR2-mediated antiinflammatory effects of endothelial tetrahydrobiopterin inhibit vascular injury-induced accelerated atherosclerosis.
Endothelial GTPCH in eNOS uncoupling and atherosclerosis.
Increased endothelial tetrahydrobiopterin synthesis by targeted transgenic GTP-cyclohydrolase I overexpression reduces endothelial dysfunction and atherosclerosis in ApoE-knockout mice.
Increased vascular biosynthesis of tetrahydrobiopterin in apolipoprotein E-deficient mice.
Induction of vascular GTP-cyclohydrolase I and endogenous tetrahydrobiopterin synthesis protect against inflammation-induced endothelial dysfunction in human atherosclerosis.
Nicotine induces endothelial dysfunction and promotes atherosclerosis via GTPCH1.
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.
Expression of constitutively active c-MET receptor in human choriocarcinoma.
Garlic can induce both GTP cyclohydrolase and nitric oxide synthase activity in choriocarcinoma cells.
Lack of effective messenger RNA for beta 2-microglobulin in a gestational human choriocarcinoma cell line (GCH-1).
[Dynamics of various peptide hormone receptors in human placental cell membranes]
[Effects of various growth factors on the growth of trophoblast cells in long-term culture]
[Establishment and characterization of a cell line [GCH-1 (m)] highly metastasizing to the lung in nude mice]
[Establishment of methotrexate-resistant human gestational choriocarcinoma cells in culture and analysis of mechanism of resistance]
[Inhibitory effects of OK-432 and PSK on cell growth of in vitro human choriocarcinoma cell lines]
[Low susceptibility of choriocarcinoma cell lines to lymphokine activated killer (LAK) cells]
[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.
GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus.
Non-Covalent Interaction between Polyubiquitin and GTP Cyclohydrolase 1 Dictates Its Degradation.
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.
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.
Nurr1:RXR? heterodimer activation as monotherapy for Parkinson's disease.
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.
A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene - Segawa disease.
A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form.
A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease).
A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia.
A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.
A novel missense mutation in GCH1 gene in a Korean family with Segawa disease.
A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes dopa-responsive dystonia in Chinese Han population.
A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.
A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia.
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.
A novel mutation in GCH-1 gene in a case of dopa-responsive 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.
A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia.
A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia.
A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.
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.
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.
An unusual presentation of tyrosine hydroxylase deficiency.
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.
Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.
Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.
Clinical and molecular genetics of primary dystonias.
Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.
Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation.
Diagnosis and treatment of neurotransmitter-related disorders.
Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia.
Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive 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.
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
Dopa-responsive dystonia and Tourette syndrome in a large Danish family.
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.
Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.
Dopa-responsive Dystonia in Children.
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.
Dopa-responsive dystonia is induced by a dominant-negative mechanism.
Dopa-responsive dystonia.
Dopa-responsive dystonia: a clinical and molecular genetic study.
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.
Dystonia-plus syndromes.
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.
Endothelial, Sympathetic and Cardiac Function in Inherited 6R-L-erythro-5,6,7,8-tetrahydro-L-biopterin Deficiency.
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.
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.
GCH1 in early-onset Parkinson's disease.
GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.
GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.
Gene symbol: GTP cyclohydrolase I (GCH-I). Disease: dopa-responsive dystonia.
Genetic mutations that prevent pain: implications for future pain medication.
Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.
Genetics in dystonia.
Genetics of pain, opioids, and opioid responsiveness.
Genetics of primary dystonia.
Growth Hormone Deficiency in a Dopa-Responsive Dystonia Patient With a Novel Mutation of Guanosine Triphosphate Cyclohydrolase 1 Gene.
GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia.
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.
GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.
GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.
GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.
GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.
Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
Hereditary progressive dystonia with marked diurnal fluctuation.
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein.
Human tyrosine hydroxylase in Parkinson's disease and in related disorders.
Influence of development and aging on brain biopterin: implications for dopa-responsive dystonia onset.
Intracortical inhibition of the motor cortex in Segawa disease (DYT5).
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?
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.
Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia.
Molecular genetics of hereditary dystonia--mutations in the GTP cyclohydrolase I gene.
Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.
Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster.
Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family.
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Myoclonus-dystonia syndrome.
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.
Nonmotor Symptoms in Dopa-Responsive Dystonia.
Normal values and age-dependent changes in GTP cyclohydrolase I activity in stimulated mononuclear blood cells measured by high-performance liquid chromatography.
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.
Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.
Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.
Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.
Older-onset levodopa-responsive parkinsonism with normal DAT-SPECT and pterin hypometabolism.
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
Rat GTP cyclohydrolase I is a homodecameric protein complex containing high-affinity calcium-binding sites.
Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia.
Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene.
Stimulation of the brain NO/cyclic GMP pathway by peripheral administration of tetrahydrobiopterin in the hph-1 mouse.
Structural basis of biopterin-induced inhibition of GTP cyclohydrolase I by GFRP, its feedback regulatory protein.
Tetrahydrobiopterin and biogenic amine metabolism in the hph-1 mouse.
Tetrahydrobiopterin metabolism and GTP cyclohydrolase I mutations in L-dopa-responsive dystonia.
The effect of GTP cyclohydrolase-1 on tyrosine hydroxylase expression: implications in DOPA-responsive dystonia.
The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia.
The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study.
The neurophysiology of dystonia.
Transcranial sonography in dopa-responsive dystonia.
Two in the hand, an essential lesson in tremor management.
Two novel mutations of the GTP cyclohydrolase I gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
Uneventful Electroconvulsive Therapy in a Patient With Dopa-Responsive Dystonia (Segawa Syndrome).
Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.
Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
[Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene]
[Biopterin and child neurologic disease]
[Dopa-responsive dystonia: clinical, genetic, and biochemical studies]
[Genetics of dystonia]
[GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia.]
[Hereditary progressive dystonia with marked diurnal fluctuation--clinical features and GTP cyclohydrolase I gene mutations]
[Hereditary progressive dystonia with marked diurnal fluctuation; dominant Dopa-responsive dystonia linked to GTP cyclohydrolase I gene (HPD/DRD); Segawa's disease]
[Molecular biology of hereditary dystonia]
[Molecular genetics of hereditary progressive dystonia (HPD/Segawa's disease)]
[Molecular mechanisms of neurotransmission]
[Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia]
[Visual child neurology]
Dystonia Musculorum Deformans
Clinical and molecular genetic evaluation of patients with primary dystonia.
Clinical and molecular genetics of primary dystonias.
Dopa-responsive dystonia: a clinical and molecular genetic study.
Genetics of primary dystonia.
GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.
[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.
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.
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.
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.
A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene - Segawa disease.
A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency.
A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
A requirement for Gch1 and tetrahydrobiopterin in embryonic development.
Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient mice.
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
An unusual presentation of tyrosine hydroxylase deficiency.
Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency.
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.
Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Diagnosing dopamine-responsive dystonias.
Diagnosis and treatment of neurotransmitter-related disorders.
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
Differential diagnosis of tetrahydrobiopterin deficiency.
Disorders of biopterin metabolism.
Dopa-responsive Dystonia in Children.
Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Dopa-responsive dystonia: a clinical and molecular genetic study.
Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency.
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness.
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
GTP cyclohydrolase I expression, protein, and activity determine intracellular tetrahydrobiopterin levels, independent of GTP cyclohydrolase feedback regulatory protein expression.
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 gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.
Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.
Hereditary progressive dystonia with marked diurnal fluctuation.
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.
Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency.
International database of tetrahydrobiopterin deficiencies.
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
Monoamine neurotransmitter deficiencies.
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency.
Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.
Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies.
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).
Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts.
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse.
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
Uneventful Electroconvulsive Therapy in a Patient With Dopa-Responsive Dystonia (Segawa Syndrome).
[Autosomal recessive GTPCH 1 deficiency: the importance of the analysis of neurotransmitters in cerebrospinal fluid].
[Biopterin and child neurologic disease]
[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.
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.
Endothelium-specific GTP cyclohydrolase I overexpression attenuates blood pressure progression in salt-sensitive low-renin hypertension.
Gene transfer of human guanosine 5'-triphosphate cyclohydrolase I restores vascular tetrahydrobiopterin level and endothelial function in low renin hypertension.
Glucocorticoids inhibit tetrahydrobiopterin-dependent endothelial function.
GTP cyclohydrolase 1 downregulation contributes to glucocorticoid hypertension in rats.
GTP cyclohydrolase I/BH4 pathway protects EPCs via suppressing oxidative stress and thrombospondin-1 in salt-sensitive hypertension.
Non-Covalent Interaction between Polyubiquitin and GTP Cyclohydrolase 1 Dictates Its Degradation.
Oxidative Stress, GTPCH1, and Endothelial Nitric Oxide Synthase Uncoupling in Hypertension.
The protein partners of GTP cyclohydrolase I in rat organs.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Endothelial, Sympathetic and Cardiac Function in Inherited 6R-L-erythro-5,6,7,8-tetrahydro-L-biopterin Deficiency.
Growth Hormone Deficiency in a Dopa-Responsive Dystonia Patient With a Novel Mutation of Guanosine Triphosphate Cyclohydrolase 1 Gene.
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.
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.
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.
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.
[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.
Author's reply to Kapoor S. GTP cyclohydrolase and cancer pain.
Biochemistry and function of pteridine synthesis in human and murine macrophages.
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.
Current Understanding of the Mechanisms Underlying Immune Evasion From PD-1/PD-L1 Immune Checkpoint Blockade in Head and Neck Cancer.
Cytokine-stimulated GTP cyclohydrolase I expression in endothelial cells requires coordinated activation of nuclear factor-kappaB and Stat1/Stat3.
Cytokines stimulate GTP cyclohydrolase I gene expression in cultured human umbilical vein endothelial cells.
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.
Downregulation of tetrahydrobiopterin inhibits tumor angiogenesis in BALB/c-nu mice with hepatocellular carcinoma.
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.
Evolving role of GTP cyclohydrolase 1 inhibition in mitigating cancer pain besides its role in attenuating tumor growth.
GTP cyclohydrolase I is coinduced in hepatocytes stimulated to produce nitric oxide.
HMG-CoA reductase inhibitor increases GTP cyclohydrolase I mRNA and tetrahydrobiopterin in vascular endothelial cells.
Impact of tumour necrosis factor-alpha and interferon-gamma on tetrahydrobiopterin synthesis in murine fibroblasts and macrophages.
Increased GTP cyclohydrolase activity promotes tumor growth.
Induction of inducible nitric oxide synthase, argininosuccinate synthase, and GTP cyclohydrolase I in arthritic joints of human tumor necrosis factor-alpha transgenic mice.
Inhibition of GTP cyclohydrolase attenuates tumor growth by reducing angiogenesis and M2-like polarization of tumor associated macrophages.
Inhibition of GTP cyclohydrolase reduces cancer pain in mice and enhances analgesic effects of morphine.
Involvement of sphingosine kinase in TNF-alpha-stimulated tetrahydrobiopterin biosynthesis in C6 glioma cells.
Paracrine effect of GTP cyclohydrolase and angiopoietin-1 interaction in stromal fibroblasts on tumor Tie2 activation and breast cancer growth.
Protein kinase C phosphorylates and activates GTP cyclohydrolase I in rat renal mesangial cells.
Reactive Species Balance via GTP Cyclohydrolase I Regulates Glioblastoma Growth and Tumor Initiating Cell Maintenance.
Regulation of tetrahydrobiopterin biosynthesis in cultured adrenal cortical tumor cells by adrenocorticotropin and adenosine 3',5'-cyclic monophosphate.
Regulation of tetrahydrobiopterin synthesis and bioavailability in endothelial cells.
Roles of tetrahydrobiopterin in promoting tumor angiogenesis.
Tetrahydrobiopterin and cytokines.
[Effects of tetrahydrobiopterin on the angiogenesis in hepatocellular carcinoma].
[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.
Changes of GTP cyclohydrolase I and neuronal apoptosis in rat spinal dorsal cord induced by sciatic nerve injury.
Effective relief of neuropathic pain by adeno-associated virus-mediated expression of a small hairpin RNA against GTP cyclohydrolase 1.
Guanosine-5'-triphosphate cyclohydrolase 1 regulated long noncoding RNAs are potential targets for microglial activation in neuropathic pain.
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.
Effect of peripherally administered lipopolysaccharide (LPS) on GTP cyclohydrolase I, tetrahydrobiopterin and norepinephrine in the locus coeruleus in mice.
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.
Brain transplantation of human neural stem cells transduced with tyrosine hydroxylase and GTP cyclohydrolase 1 provides functional improvement in animal models of 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.
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.
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
Dopamine release via the vacuolar ATPase V0 sector c-subunit, confirmed in N18 neuroblastoma cells, results in behavioral recovery in hemiparkinsonian mice.
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.
GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia.
GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's 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.
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's 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.
Older-onset levodopa-responsive parkinsonism with normal DAT-SPECT and pterin hypometabolism.
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Study of GCH1 and TH genes in Chinese patients with Parkinson's 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.
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.
[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.
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
Differences in the metabolism of the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in mutant mice with neurological and immunological defects.
GCH-1 genetic variant may cause Parkinsonism by unmasking the subclinical nigral pathology.
GTP cyclohydrolase I activity in mononuclear blood cells in juvenile parkinsonism.
GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.
GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.
GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.
Older-onset levodopa-responsive parkinsonism with normal DAT-SPECT and pterin hypometabolism.
Parkinsonism in GTP cyclohydrolase 1 mutation carriers.
Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.
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.
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
Differences in the metabolism of the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in mutant mice with neurological and immunological defects.
Differential diagnosis of tetrahydrobiopterin deficiency.
Dopa-responsive dystonia: a clinical and molecular genetic study.
Effects of sepiapterin and 6-acetyldihydrohomopterin on the guanosine triphosphate cyclohydrolase I of mouse, rat and the fruit-fly Drosophila.
Endothelial, Sympathetic and Cardiac Function in Inherited 6R-L-erythro-5,6,7,8-tetrahydro-L-biopterin Deficiency.
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
Gene transfer of human guanosine 5'-triphosphate cyclohydrolase I restores vascular tetrahydrobiopterin level and endothelial function in low renin hypertension.
GTP cyclohydrolase I gene transfer reverses tetrahydrobiopterin deficiency and increases nitric oxide synthesis in endothelial cells and isolated vessels from diabetic rats.
Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.
International database of tetrahydrobiopterin deficiencies.
Ionizing radiation induces BH4 deficiency by downregulating GTP-cyclohydrolase 1, a novel target for preventing and treating radiation enteritis.
Molecular characterization of HPH-1: a mouse mutant deficient in GTP cyclohydrolase I activity.
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.
Proteasome-dependent degradation of guanosine 5'-triphosphate cyclohydrolase I causes tetrahydrobiopterin deficiency in diabetes mellitus.
Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies.
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.
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Tetrahydrobiopterin and biogenic amine metabolism in the hph-1 mouse.
Tetrahydrobiopterin and inherited hyperphenylalaninemias.
Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states.
Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts.
Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse.
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
Tyrosine nitration of PA700 activates the 26S proteasome to induce endothelial dysfunction in mice with angiotensin II-induced hypertension.
[Atypical phenylketonuria treatment effectiveness]
[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.
Isolation of a full-length cDNA clone for human GTP cyclohydrolase I type 1 from pheochromocytoma.
Regulation of GTP cyclohydrolase I and dihydropteridine reductase in rat pheochromocytoma PC 12 cells.
Simultaneous determination of GTP cyclohydrolase activity and biopterin content in pheochromocytoma PC12h cells.
[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.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
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.
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.
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.
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.
Mutations in GTP-cyclohydrolase I gene and 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.