Results 1 to 10 of about 13,139 (196)

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

Orphanet Journal of Rare Diseases, 2020
Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or ...
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)   +30 more
doaj   +16 more sources

Endogenous tetrahydrobiopterin in humans: circadian rhythm, sex, race, age, and disease status [PDF]

Frontiers in Pharmacology
Introduction6R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) is an essential cofactor for multiple enzymes, including phenylalanine hydroxylase (PAH). Exogenous BH4, or its natural precursor sepiapterin, is utilized to treat patients with phenylketonuria ...
Lan Gao, Neil Smith, Ronald Kong
doaj   +2 more sources

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran [PDF]

Molecular Genetics & Genomic Medicine
Hamid Galehdari, Alireza Sedaghat, Golale Rostami   +2 more
exaly   +2 more sources

Tetrahydrobiopterin Administration Augments Exercise-Induced Hyperemia and Endothelial Function in Patients With Systemic Sclerosis

Frontiers in Medicine, 2022
Systemic sclerosis (SSc) is a rare, auto-immune disease with variably progressive fibrosis of the skin and internal organs, as well as vascular dysfunction.
Daniel R. Machin, Daniel R. Machin, Daniel R. Machin, Heather L. Clifton, D. Walter Wray, D. Walter Wray, D. Walter Wray, Tracy M. Frech, Tracy M. Frech, Anthony J. Donato, Anthony J. Donato, Anthony J. Donato, Anthony J. Donato   +12 more
doaj   +1 more source

Tetrahydrobiopterin Uptake in Supplemental Administration: Elevation of Tissue Tetrahydrobiopterin in Mice Following Uptake of the Exogenously Oxidized Product 7,8-Dihydrobiopterin and Subsequent Reduction by an Anti-folate-Sensitive Process

Journal of Pharmacological Sciences, 2004
In order to increase the tissue level of tetrahydrobiopterin (BH4), supplementation with 6R-tetrahydrobiopterin (6RBH4) has been widely employed. In this work, the effectiveness of 6RBH4 was compared with 7,8-dihydrobiopterin (7,8BH2) and sepiapterin by ...
Keiko Sawabe, Kazunori Osuke Wakasugi, Hiroyuki Hasegawa   +2 more
doaj   +1 more source

Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers

Molecular Genetics and Metabolism Reports, 2019
Tetrahydrobiopterin (BH4) is a cofactor for the enzymes tyrosine hydroxylase and tryptophan hydroxylase, the rate-limiting enzymes in the production of the neurotransmitters, dopamine and serotonin, respectively, in the central nervous system (CNS ...
Neil Smith, Nicola Longo, Keith Levert, Keith Hyland, Nenad Blau   +4 more
doaj   +1 more source

Effect of Decreased Levels of Intrinsic Tetrahydrobiopterin on Endothelial Function in Anesthetized Rats

Journal of Pharmacological Sciences, 2008
Tetrahydrobiopterin (BH4) deficiency has been suggested to be an important factor in vascular endothelial dysfunction. In this study, we investigated the influence of decreased BH4 level produced by administration of 2,4-diamino-6-hydroxypyrimidine (DAHP)
Naobumi Hamadate, Katsuhiko Noguchi, Mayuko Sakanashi, Toshihiro Matsuzaki, Junko Nakasone, Matao Sakanashi   +5 more
doaj   +1 more source

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

Journal of Pharmacological Sciences, 2010
5R-l-Erythro-5,6,7,8-tetrahydrobiopterin (BH4) is an essential cofactor for tyrosine hydroxylase (TH). Recently, a type of dopa-responsive dystonia (DRD) (DYT5, Segawa’s disease) was revealed to be caused by dominant mutations of the gene encoding GTP ...
Chiho Sumi-Ichinose, Hiroshi Ichinose, Kazuhisa Ikemoto, Takahide Nomura, Kazunao Kondo   +4 more
doaj   +1 more source

A fat-derived metabolite regulates a peptidergic feeding circuit in Drosophila. [PDF]

PLoS Biology, 2017
Here, we show that the enzymatic cofactor tetrahydrobiopterin (BH4) inhibits feeding in Drosophila. BH4 biosynthesis requires the sequential action of the conserved enzymes Punch, Purple, and Sepiapterin Reductase (Sptr).
Do-Hyoung Kim, Minjung Shin, Sung-Hwan Jung, Young-Joon Kim, Walton D Jones   +4 more
doaj   +1 more source

Insulin Stimulates Tetrahydrobiopterin Synthesis in Mouse Brain Microvascular Endothelial Cells

Pteridines, 1999
We examined the effects of insulin on tetrahydrobiopterin (BH4) synthesis in mouse brain microvascular endothelial cells (MBMECs). Treatment of MBMECs with insulin increased the intracellular BH4 content in a time- and concentration-dependent manner. The
Ishi Masakazu, Shimizu Shunichi, Nagai Tsutomu, Kiuchi Yuji, Yamamoto Toshinori   +4 more
doaj   +1 more source