Results 11 to 20 of about 13,139 (196)

Tetrahydrobiopterin (Bh4) deficiencies: diagnosis and treatment

Acta Pediátrica de México, 2014
Tetrahydrobiopterin (BH4) is an enzyme cofactor of phenylalanine hydroxylase, tyrosine hydroxylase and tryptophan hydroxylase. Three different enzymes affect BH4 synthesis: guanosine triphosphate cyclohydrolase I (GTP CH 1), 6-piruvoil tetrahydropterin ...
Mercedes Martínez-Pardo
doaj   +3 more sources

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies

Molecular Genetics and Metabolism, 2021
Tetrahydrobiopterin (BH4) deficiency is caused by genetic variants in the three genes involved in de novo cofactor biosynthesis, GTP cyclohydrolase I (GTPCH/GCH1), 6-pyruvoyl-tetrahydropterin synthase (PTPS/PTS), sepiapterin reductase (SR/SPR), and the two genes involved in cofactor recycling, carbinolamine-4α-dehydratase (PCD/PCBD1) and ...
Himmelreich, Nastassja, Blau, Nenad, Thöny, Beat   +2 more
openaire   +3 more sources

Cuticle integrity and biogenic amine synthesis in Caenorhabditis elegans require the cofactor tetrahydrobiopterin (BH4). [PDF]

Genetics, 2015
Abstract Tetrahydrobiopterin (BH4) is the natural cofactor of several enzymes widely distributed among eukaryotes, including aromatic amino acid hydroxylases (AAAHs), nitric oxide synthases (NOSs), and alkylglycerol monooxygenase (AGMO).
Loer CM, Calvo AC, Watschinger K, Werner-Felmayer G, O'Rourke D, Stroud D, Tong A, Gotenstein JR, Chisholm AD, Hodgkin J, Werner ER, Martinez A.   +11 more
europepmc   +9 more sources

Central tetrahydrobiopterin concentration in neurodevelopmental disorders [PDF]

Frontiers in Neuroscience, 2010
Tetrahydrobiopterin (BH4) is a naturally occurring cofactor essential for critical metabolic pathways. Studies suggest that BH4 supplementation may ameliorate autism symptoms; the biological mechanism for such an effect is unknown.
Richard E Frye
doaj   +2 more sources

BH4 activates CaMKK2 and rescues the cardiomyopathic phenotype in rodent models of diabetes

Life Science Alliance, 2020
This study reports that BH4 activates CaMKK2/PGC-1α; signaling pathway and has a therapeutic effect on diabetic cardiomyopathy. Diabetic cardiomyopathy (DCM) is a major cause of mortality/morbidity in diabetes mellitus patients.
Hyoung Kyu Kim, Tae Hee Ko, In-Sung Song, Yu Jeong Jeong, Hye Jin Heo, Seung Hun Jeong, Min Kim, Nam Mi Park, Dae Yun Seo, Pham Trong Kha, Sun-Woo Kim, Sung Ryul Lee, Sung Woo Cho, Jong Chul Won, Jae Boum Youm, Kyung Soo Ko, Byoung Doo Rhee, Nari Kim, Kyoung Im Cho, Ippei Shimizu, Tohru Minamino, Nam-Chul Ha, Young Shik Park, Bernd Nilius, Jin Han   +24 more
doaj   +2 more sources

Metabolism and regulation of tetrahydrobiopterin and its implications for BH4-responsive hyperphenylalaninemia and BH4-deficiencies [PDF]

, 2008
The autosomal recessive inherited, metabolic disorder phenylketonuria (PKU) is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH) – a key enzyme in the catabolism of phenylalanine. PKU patients present with noxiously increased concentrations of the amino acid phenylalanine in the plasma, leading to a so-called hyperphenylalaninemia ...
Zurflüh, M R
core   +3 more sources

Effect of 5,6,7,8-Tetrahydrobiopterin (BH4) on γ-Ray-induced Micronucleus Frequency in RAW264.7 Cells

Pteridines, 2006
The effect of 5,6,7,8-tetrahydrobiopterin (BH4), an endogenous antioxidant, on γ-ray-induced micronucleus frequency was examined in RAW264.7 cells. Exogenously added BH4 reduced the γ-ray-induced micronucleus frequency. Treatment with 1 mM sepiapterin, a
Hori Mayumi, Kojima Shuji
doaj   +2 more sources

The Critical Role of Tetrahydrobiopterin (BH4) Metabolism in Modulating Radiosensitivity: BH4/NOS Axis as an Angel or a Devil. [PDF]

Front Oncol, 2021
Ionizing radiation and radioactive materials have been widely used in industry, medicine, science and military. The efficacy of radiotherapy and adverse effects of normal tissues are closed related to cellular radiosensitivity. Molecular mechanisms underlying radiosensitivity are of significance to tumor cell radiosensitization as well as normal tissue
Feng Y, Feng Y, Gu L, Liu P, Cao J, Zhang S.   +5 more
europepmc   +5 more sources

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. [PDF]

Orphanet J Rare Dis, 2020
An amendment to this paper has been published and can be accessed via the original article.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O, International Working Group on Neurotransmitter related Disorders (iNTD).   +30 more
europepmc   +9 more sources

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling

Molecular Genetics and Metabolism, 2015
Neonatal loading studies with tetrahydrobiopterin (BH4) are used to detect hyperphenylalaninemia due to BH4 deficiency by evaluating decreases in blood phenylalanine (Phe) concentrations post BH4 load. BH4 responsiveness in phenylalanine hydroxylase (PAH)-deficient patients introduced a new diagnostic aspect for this test.
Trefz, Friedrich, Lichtenberger, Olaf, Blau, Nenad, Muntau, Ania C., Feillet, François, Bélanger-Quintana, Amaya, van Spronsen, Francjan, Munafo, Alain   +7 more
openaire   +6 more sources