Suchergebnisse - "GTP Cyclohydrolase"

Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.

Autoren: de Alencar Guerra A Cavalcanti EBU Montanaro VVA et al.

Quelle: Journal of the neurological sciences [J Neurol Sci] 2025 Nov 15; Vol. 478, pp. 123680. Date of Electronic Publication: 2025 Aug 29.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

MeSH-Schlagworte: Dystonic Disorders*/genetics , Dystonic Disorders*/drug therapy , Dystonic Disorders*/diagnosis , GTP Cyclohydrolase*/genetics, Humans ; Female ; Male ; Brazil/epidemiology ; Child ; Levodopa/therapeutic use ; Retrospective Studies ; Adolescent ; Cohort Studies ; Child, Preschool ; Adult ; Young Adult ; Genetic Association Studies ; Tyrosine 3-Monooxygenase/genetics ; Phenotype

SCR Disease Name: Dystonia, Dopa-responsive

Artemisinin alleviates Parkinson's disease by targeting Adcy5-Gch1 axis to trigger a cascade generation of BH4 and dopamine in rats.

Autoren: Yang XX Wang GQ Wen Q et al.

Quelle: Genome biology [Genome Biol] 2025 Sep 04; Vol. 26 (1), pp. 267. Date of Electronic Publication: 2025 Sep 04.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

MeSH-Schlagworte: GTP Cyclohydrolase*/metabolism , GTP Cyclohydrolase*/genetics , Biopterins*/analogs & derivatives , Biopterins*/metabolism , Biopterins*/biosynthesis , Parkinson Disease*/drug therapy , Parkinson Disease*/metabolism , Dopamine*/metabolism , Artemisinins*/pharmacology , Artemisinins*/therapeutic use , Adenylyl Cyclases*/metabolism , Adenylyl Cyclases*/chemistry, Animals ; Rats ; Male ; Neuroprotective Agents/pharmacology ; Molecular Docking Simulation ; Humans ; Rats, Sprague-Dawley

The Role of GCH1 Deficiency and Tetrahydrobiopterin in Mental Health.

Autoren: Williams GE Hausman-Cohen S Sotos M et al.

Quelle: International journal of molecular sciences [Int J Mol Sci] 2025 Aug 20; Vol. 26 (16). Date of Electronic Publication: 2025 Aug 20.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

MeSH-Schlagworte: Biopterins*/analogs & derivatives , Biopterins*/deficiency , Biopterins*/metabolism , Biopterins*/analogs & derivatives , GTP Cyclohydrolase*/deficiency , GTP Cyclohydrolase*/genetics , Mental Health* , Phenylketonurias*/genetics, Humans ; Attention Deficit Disorder with Hyperactivity/genetics

Direct long-read visualization reveals hidden variation in GCH1 gene copy number and precise expansion steps.

Autoren: Liu S Zulawinska J Ebel ER et al.

Quelle: BMC genomics [BMC Genomics] 2025 Jul 17; Vol. 26 (1), pp. 671. Date of Electronic Publication: 2025 Jul 17.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

MeSH-Schlagworte: Plasmodium falciparum*/genetics , Plasmodium falciparum*/drug effects , GTP Cyclohydrolase*/genetics , Gene Dosage* , DNA Copy Number Variations* , Protozoan Proteins*/genetics, Dihydroorotate Dehydrogenase ; Oxidoreductases Acting on CH-CH Group Donors/antagonists & inhibitors ; Oxidoreductases Acting on CH-CH Group Donors/genetics ; Drug Resistance/genetics ; Humans

Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.

Autoren: Fontanesi D Di Rauso G Cavallieri F et al.

Quelle: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2025 Aug; Vol. 46 (8), pp. 4007-4009. Date of Electronic Publication: 2025 Mar 27.

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

MeSH-Schlagworte: Dystonic Disorders*/genetics , Dystonic Disorders*/diagnosis , Dystonic Disorders*/drug therapy , GTP Cyclohydrolase*/genetics , Spastic Paraplegia, Hereditary*/diagnosis , Spastic Paraplegia, Hereditary*/genetics, Humans ; Female ; Diagnosis, Differential ; Levodopa/therapeutic use

SCR Disease Name: Dystonia, Dopa-responsive

Enhanced folate content in bioengineered lettuce stably expressed under field conditions.

Autoren: Queiroz LN Monteiro TR Gomes ACMM et al.

Quelle: Transgenic research [Transgenic Res] 2025 Apr 11; Vol. 34 (1), pp. 20. Date of Electronic Publication: 2025 Apr 11.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 9209120 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-9368 (Electronic) Linking ISSN: 09628819 NLM ISO Abbreviation: Transgenic Res Subsets: MEDLINE

MeSH-Schlagworte: Lactuca*/genetics , Lactuca*/metabolism , Lactuca*/growth & development , Folic Acid*/genetics , Folic Acid*/metabolism , Folic Acid*/biosynthesis , Plants, Genetically Modified*/genetics , Plants, Genetically Modified*/growth & development , Plants, Genetically Modified*/metabolism , GTP Cyclohydrolase*/genetics , GTP Cyclohydrolase*/metabolism, Arabidopsis/genetics ; Arabidopsis/enzymology ; Biofortification ; Crops, Agricultural/genetics ; Humans ; Arabidopsis Proteins/genetics ; Transaminases

GTP cyclohydrolase II (gch2) and axanthism in ball pythons: A new vertebrate model for pterin-based pigmentation.

Autoren: García-Elfring A Roffey HL Abergas JM et al.

Quelle: Animal genetics [Anim Genet] 2025 Apr; Vol. 56 (2), pp. e70011.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print Cited Medium: Internet ISSN: 1365-2052 (Electronic) Linking ISSN: 02689146 NLM ISO Abbreviation: Anim Genet Subsets: MEDLINE

MeSH-Schlagworte: Pterins*/metabolism , GTP Cyclohydrolase*/genetics , Pigmentation*/genetics , Boidae*/genetics , Boidae*/physiology, Animals

Association of GCH1 polymorphism with Parkinson disease susceptibility: A meta-analysis.

Autoren: Wang J Shao F Lin H et al.

Quelle: Medicine [Medicine (Baltimore)] 2025 Apr 18; Vol. 104 (16), pp. e42141.

Publikationsart: Journal Article; Meta-Analysis

Info zur Zeitschrift: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

MeSH-Schlagworte: Genetic Predisposition to Disease* , GTP Cyclohydrolase*/genetics , Parkinson Disease*/genetics, Humans ; Polymorphism, Single Nucleotide ; White People/genetics

Cross-species RNAi therapy via AAV delivery alleviates neuropathic pain by targeting GCH1.

Autoren: Chang H Lee KJ Park M et al.

Quelle: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2025 Mar; Vol. 22 (2), pp. e00511. Date of Electronic Publication: 2024 Dec 14.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Inc. on behalf of American Society for Experimental NeuroTherapeutics Country of Publication: United States NLM ID: 101290381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE

MeSH-Schlagworte: GTP Cyclohydrolase*/genetics , GTP Cyclohydrolase*/metabolism , Neuralgia*/therapy , RNAi Therapeutics*/methods , RNA Interference*/physiology, Animals ; Rats, Sprague-Dawley ; Male ; Dependovirus/genetics ; Rats ; Humans ; Biopterins/analogs & derivatives ; Biopterins/blood ; RNA, Small Interfering/administration & dosage ; RNA, Small Interfering/genetics ; Genetic Vectors

Pathogenic Variant in the 5'-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.

Autoren: Li Y Li M Liu L et al.

Quelle: Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2025 Jan 07; Vol. 15, pp. 1. Date of Electronic Publication: 2025 Jan 07 (Print Publication: 2025).

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: Ubiquity Press Country of Publication: England NLM ID: 101569493 Publication Model: eCollection Cited Medium: Internet ISSN: 2160-8288 (Electronic) Linking ISSN: 21608288 NLM ISO Abbreviation: Tremor Other Hyperkinet Mov (N Y) Subsets: MEDLINE

MeSH-Schlagworte: GTP Cyclohydrolase*/genetics , Dystonic Disorders*/genetics , Dystonic Disorders*/drug therapy , Dystonic Disorders*/physiopathology , 5' Untranslated Regions*/genetics, Humans ; Female ; Middle Aged ; Pedigree ; Male ; Asian People/genetics ; Levodopa/therapeutic use ; Adult ; Exome Sequencing ; Mutation ; China ; East Asian People

SCR Disease Name: Dystonia, Dopa-responsive

CTRP13 attenuates atherosclerosis by inhibiting endothelial cell ferroptosis via activating GCH1.

Autoren: Du J Zhu X Zhang Y et al.

Quelle: International immunopharmacology [Int Immunopharmacol] 2024 Dec 25; Vol. 143 (Pt 3), pp. 113617. Date of Electronic Publication: 2024 Nov 15.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 100965259 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1705 (Electronic) Linking ISSN: 15675769 NLM ISO Abbreviation: Int Immunopharmacol Subsets: MEDLINE

MeSH-Schlagworte: Ferroptosis* , Endothelial Cells*/metabolism , Atherosclerosis*/metabolism , Atherosclerosis*/pathology , Adipokines*/metabolism , GTP Cyclohydrolase*/metabolism , GTP Cyclohydrolase*/genetics, Animals ; Male ; Mice ; Phospholipid Hydroperoxide Glutathione Peroxidase/metabolism ; Phospholipid Hydroperoxide Glutathione Peroxidase/genetics ; Mice, Inbred C57BL ; Lipoproteins, LDL/metabolism ; Coenzyme A Ligases/metabolism ; Coenzyme A Ligases/genetics ; Cells, Cultured ; Humans ; Aorta/pathology ; Aorta/metabolism

Overexpression of miR-133a-3p reduces microglia activation by binding to GCH1, alleviating neuroinflammation and neuropathic pain.

Autoren: Gao C Yang T Shu J et al.

Quelle: Experimental brain research [Exp Brain Res] 2024 Dec 12; Vol. 243 (1), pp. 23. Date of Electronic Publication: 2024 Dec 12.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0043312 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1106 (Electronic) Linking ISSN: 00144819 NLM ISO Abbreviation: Exp Brain Res Subsets: MEDLINE

MeSH-Schlagworte: MicroRNAs*/metabolism , MicroRNAs*/genetics , Neuralgia*/metabolism , Microglia*/metabolism , Microglia*/drug effects , GTP Cyclohydrolase*/metabolism , GTP Cyclohydrolase*/genetics , Neuroinflammatory Diseases*/metabolism , Rats, Sprague-Dawley*, Animals ; Rats ; Male ; Mice ; Lipopolysaccharides/pharmacology

Catecholamines and Parkinson's disease: tyrosine hydroxylase (TH) over tetrahydrobiopterin (BH4) and GTP cyclohydrolase I (GCH1) to cytokines, neuromelanin, and gene therapy: a historical overview.

Autoren: Nagatsu T; Center for Research Promotion and Support, Fujita Health University, Toyoake, Aichi, 470-1192, Japan. tnagatsu@fujita-hu.ac.jp.

Quelle: Journal of neural transmission (Vienna, Austria : 1996) [J Neural Transm (Vienna)] 2024 Jun; Vol. 131 (6), pp. 617-630. Date of Electronic Publication: 2023 Aug 28.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 9702341 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-1463 (Electronic) Linking ISSN: 03009564 NLM ISO Abbreviation: J Neural Transm (Vienna) Subsets: MEDLINE

MeSH-Schlagworte: GTP Cyclohydrolase*/genetics , GTP Cyclohydrolase*/metabolism , Parkinson Disease*/therapy , Parkinson Disease*/metabolism , Parkinson Disease*/genetics , Biopterins*/analogs & derivatives , Biopterins*/metabolism , Genetic Therapy* , Tyrosine 3-Monooxygenase*/metabolism , Melanins*/metabolism , Catecholamines*/metabolism, Humans ; Cytokines/metabolism ; Animals

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Autoren: Novelli M Tolve M Quiroz V et al.

Quelle: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Sep; Vol. 11 (9), pp. 1072-1084. Date of Electronic Publication: 2024 Jul 12.

Publikationsart: Case Reports; Journal Article; Systematic Review

Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

MeSH-Schlagworte: Dystonic Disorders*/genetics , Dystonic Disorders*/diagnosis , Dystonic Disorders*/congenital , GTP Cyclohydrolase*/genetics , GTP Cyclohydrolase*/deficiency , GTP Cyclohydrolase*/metabolism , Phenotype*, Humans

SCR Disease Name: Dystonia, Dopa-responsive

Long non‑coding RNA lung cancer‑associated transcript 1 regulates ferroptosis via microRNA‑34a‑5p‑mediated GTP cyclohydrolase 1 downregulation in lung cancer cells.

Autoren: Tai F Zhai R Ding K et al.

Quelle: International journal of oncology [Int J Oncol] 2024 Jun; Vol. 64 (6). Date of Electronic Publication: 2024 May 17.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: D.A. Spandidos Country of Publication: Greece NLM ID: 9306042 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1791-2423 (Electronic) Linking ISSN: 10196439 NLM ISO Abbreviation: Int J Oncol Subsets: MEDLINE

MeSH-Schlagworte: Ferroptosis*/genetics , MicroRNAs*/genetics , Lung Neoplasms*/genetics , Lung Neoplasms*/pathology , Lung Neoplasms*/metabolism , RNA, Long Noncoding*/genetics , RNA, Long Noncoding*/metabolism , Gene Expression Regulation, Neoplastic* , Down-Regulation* , GTP Cyclohydrolase*/genetics , GTP Cyclohydrolase*/metabolism, Humans ; A549 Cells ; Cell Proliferation ; Carcinoma, Non-Small-Cell Lung/genetics ; Carcinoma, Non-Small-Cell Lung/pathology ; Carcinoma, Non-Small-Cell Lung/metabolism ; Male ; Cell Line, Tumor ; Female ; Adenocarcinoma of Lung/genetics ; Adenocarcinoma of Lung/pathology ; Adenocarcinoma of Lung/metabolism

Tetrahydrobiopterin metabolism attenuates ROS generation and radiosensitivity through LDHA S-nitrosylation: novel insight into radiogenic lung injury.

Autoren: Feng Y Gu L Mo W et al.

Quelle: Experimental & molecular medicine [Exp Mol Med] 2024 May; Vol. 56 (5), pp. 1107-1122. Date of Electronic Publication: 2024 May 01.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9607880 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-6413 (Electronic) Linking ISSN: 12263613 NLM ISO Abbreviation: Exp Mol Med Subsets: MEDLINE

MeSH-Schlagworte: Biopterins*/analogs & derivatives , Biopterins*/metabolism , Reactive Oxygen Species*/metabolism , Lung Injury*/metabolism , Lung Injury*/etiology , GTP Cyclohydrolase*/metabolism , GTP Cyclohydrolase*/genetics, Animals ; Mice ; Humans ; Radiation Tolerance/genetics ; Lactate Dehydrogenase 5/metabolism ; Mice, Knockout ; Nitric Oxide/metabolism ; L-Lactate Dehydrogenase/metabolism ; L-Lactate Dehydrogenase/genetics ; Protein Processing, Post-Translational ; Radiation, Ionizing

Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.

Autoren: Jung-Klawitter S Richter P Yuan Y et al.

Quelle: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 517-532. Date of Electronic Publication: 2023 Dec 12.

Publikationsart: Journal Article; Research Support, Non-U.S. Gov't

Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

MeSH-Schlagworte: Dystonic Disorders*/genetics , Dystonic Disorders*/metabolism , Dystonic Disorders*/enzymology , GTP Cyclohydrolase*/genetics , GTP Cyclohydrolase*/metabolism , Tyrosine 3-Monooxygenase*/genetics , Tyrosine 3-Monooxygenase*/metabolism, Humans ; Enzyme Stability ; HEK293 Cells ; Mutation

Exploring the effects of vasoactive constituents in large cardamom: implications for the anti-hypertensive effect via eNOS coupling pathway - an in-vitro study in rat endothelial cells.

Autoren: Mandal P Pradhan SM Mathew AA et al.

Quelle: Natural product research [Nat Prod Res] 2025 Sep; Vol. 39 (17), pp. 4888-4894. Date of Electronic Publication: 2024 May 14.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Taylor & Francis Health Sciences Country of Publication: England NLM ID: 101167924 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1478-6427 (Electronic) Linking ISSN: 14786419 NLM ISO Abbreviation: Nat Prod Res Subsets: MEDLINE

MeSH-Schlagworte: Nitric Oxide Synthase Type III*/metabolism , Antihypertensive Agents*/pharmacology , Antihypertensive Agents*/chemistry , Endothelial Cells*/drug effects , Endothelial Cells*/metabolism , Elettaria*/chemistry, Animals ; Rats ; Nitric Oxide/metabolism ; Anthocyanins/pharmacology ; Anthocyanins/chemistry ; Glucosides/pharmacology ; Superoxide Dismutase/metabolism ; GTP Cyclohydrolase/metabolism ; NG-Nitroarginine Methyl Ester/pharmacology ; Tetrahydrofolate Dehydrogenase/metabolism ; Antioxidants/pharmacology

An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.

Autoren: El-Wahsh S Fellner A Hobbs M et al.

Quelle: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 May; Vol. 11 (5), pp. 582-585. Date of Electronic Publication: 2024 Mar 18.

Publikationsart: Case Reports; Letter

Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

MeSH-Schlagworte: GTP Cyclohydrolase*/genetics , Dystonic Disorders*/genetics , Dystonic Disorders*/drug therapy, Humans ; Male ; Female ; Adult

SCR Disease Name: Dystonia, Dopa-responsive

De novo p.Glu61Ter mutation in GCH1 in a Moroccan patient with dopa-responsive dystonia: a case report.

Autoren: Bouhouche A Tamaoui L Birouk N

Quelle: The Pan African medical journal [Pan Afr Med J] 2024 Apr 03; Vol. 47, pp. 159. Date of Electronic Publication: 2024 Apr 03 (Print Publication: 2024).

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: African Field Epidemiology Network Country of Publication: Uganda NLM ID: 101517926 Publication Model: eCollection Cited Medium: Internet ISSN: 1937-8688 (Electronic) NLM ISO Abbreviation: Pan Afr Med J Subsets: MEDLINE

MeSH-Schlagworte: GTP Cyclohydrolase*/genetics , Dystonic Disorders*/genetics , Dystonic Disorders*/drug therapy, Humans ; Morocco ; Mutation ; Male ; Female ; Codon, Nonsense

SCR Disease Name: Dystonia, Dopa-responsive