Results 131 to 140 of about 68,431 (214)

Tetrahydrobiopterin Deficiency: From Phenotype to Genotype

Pteridines, 1993
As a result of the selective screening worldwide during the last 18 years, approximately 250 patients with tetrahydrobiopterin deficiency were discovered.
Blau Nenad, Thöny Beat, Heizmann Claus W., Dhondt Jean-Louis   +3 more
doaj   +1 more source

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia [PDF]

, 2017
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely ...
Abada, Myriem, Bouteiller, Delphine, Brice, Alexis, Camuzat, Agnès, Castelnau, Pierre, Cazeneuve, Cécile, Chabrol, Brigitte, Clot, Fabienne, Damier, Philippe, Doummar, Diane, Durr, Alexandra, Fedirko, Estelle, Gil, Roger, Grabli, David, Hutchinson, Michael, Landrieu, Pierre, LeGuern, Eric, Nguyen, Karine, Picard, Fabienne, Ponsot, Gérard, Roze, Emmanuel, Sân, Chankannira, Thobois, Stéphane, Toutain, Annick, Vidailhet, Marie, Ward, Alana J.   +25 more
core  

Expression of Concern. Shuangxi Wang, Jian Xu, Ping Song, Benoit Viollet, and Ming-Hui Zou. In Vivo Activation of AMP-Activated Protein Kinase Attenuates Diabetes-Enhanced Degradation of GTP Cyclohydrolase I. Diabetes 2009;58:1893-1901. DOI: 10.2337/db09-0267. PMID: 19528375. PMCID: PMC2712774. [PDF]

Diabetes, 2023
American Diabetes Association.
europepmc   +1 more source

Influence of an Aromatic Amino Acid Decarboxylase Inhibitor on GTP Cyclohydrolase I Activity in the Rat Brain

Pteridines, 1997
Based on the hypothesis that catecholamine decreases may cause increases in biopterin, we measured the GTP cyclohydrolase I(GTPCH-I) activity and biopterin content in the cerebral cortex, midbrain/diencephalon, cerebeilum, pons/medulla oblongata ...
Sakamoto Hideo, Fujita Ko, Kuzuya Hiroshi   +2 more
doaj   +1 more source

Stimulation of Tetrahydrobiopterin Synthesis by Cyclosporin A during Lipopolysaccharide Treatment in Vascular Endothelial Cells

Pteridines, 2002
We examined the effect of immunosuppressant cyclosporin A (CsA) on the synthesis of tetrahydrobiopterin (BH4), which is a cofactor for nitric oxide synthase (NOS), during treatment with lipopolysaccharide (LPS) in mouse brain microvascular endothelial ...
Ishii Masakazu, Shimizu Shunichi, Shiota Kazuhiro, Yamamoto Shinichiro, Kiuchi Yuji, Yamamoto Toshinori   +5 more
doaj   +1 more source

Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle [PDF]

, 2018
Current therapy for phenylketonuria (PKU) consists of life-long dietary restriction of phenylalanine (Phe), which presents problems of adherence for patients.
Thöny, Beat
core  

Die Funktion des Responseregulators ARR2 in der Entwicklung von Arabidopsis thaliana [PDF]

, 2004
In dieser Arbeit konnte mittels physiologischer Experimente, Expressionsanalysen, Phosphorylierungsassays und Transaktivierungsanalysen eine komplexe Funktion von ARR2 in verschiedenen Signaltransduktionswegen von Arabidopsis aufgedeckt werden.
Haß, Claudia
core  

Structure-based design of guanosine analogue inhibitors targeting GTP cyclohydrolase IB towards a new class of antibiotics. [PDF]

Bioorg Med Chem Lett, 2020
Samaan GN, Paranagama N, Haque A, Hecht DA, Swairjo MA, Purse BW.   +5 more
europepmc   +1 more source

Increased GTP cyclohydrolase activity promotes tumor growth [PDF]

International Journal of Cancer, 2012
openaire   +2 more sources

Transcriptional regulation of the GTP cyclohydrolase I gene via the NF-κB pathway by bacterial and viral immune stimulants. [PDF]

J Biochem
Ozawa M, Hara S, Sakamoto M, Suzuki T, Niiyama S, Kakihana Y, Ichinose H.   +6 more
europepmc   +1 more source