Results 81 to 90 of about 2,210 (155)

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

, 2014
OBJECTIVES: Sepiapterin reductase deficiency is a rare, but treatable inherited disorder of tetrahydrobiopterin and neurotransmitter metabolism. This disorder is most probably underdiagnosed.
Rengmark, A, Opladen, T, Tallaksen, C M E, Toft, M, Bjørnarå, K A, Koht, J, Selberg, T, Blau, N   +7 more
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Normalizing Tumor Vasculature Using Sepiapterin to Increase Radiosensitivity [PDF]

, 2015
Our studies examine the role of nitric oxide synthase (NOS) in tumor vasculature. NOS is “uncoupled” in tumor cells, resulting in peroxynitrite (ONOO-) formation in lieu of nitric oxide (NO).
Bruno, Ninu
core   +1 more source

Purification and Characterization of a Carbonyl Reductase from Human Liver, which is Competent in the Reduction of 6-Pyruvoyl-Tetrahydropterin

Pteridines, 1989
An enzyme which reduces 6-pyruvoyl-tetrahydropterin has been purified to apparent homogeneity from human liver. It consists of a single polypeptide chain with a molecular weight of 35 kDa, has an isoelectric point of 5.9 ± 0.1 and contains no glycosyl ...
Steinerstauch Petra, Sawada Yoshitomo, Leimbacher Walter, Ghisla Sandro, Curtius Hans-Christoph   +4 more
doaj   +1 more source

Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future

Cells, 2019
Inborn errors of monoamine neurotransmitter biosynthesis and degradation belong to the rare inborn errors of metabolism. They are caused by monogenic variants in the genes encoding the proteins involved in (1) neurotransmitter biosynthesis (like tyrosine
Sabine Jung-Klawitter, Oya Kuseyri Hübschmann   +1 more
doaj   +1 more source

6R-L-erythro-Tetrahydrobiopterin Triggers Serotonin Release with 5HT-loaded RBL2H3 Cells, a Rat Mast Cell Line

Pteridines, 1999
A new function of tetrahydrobiopterin (BH4) was demonstrated in vitro in which BH4 stimulated serotonergic cells to release serotonin (5HT). RBL2H3 cells were pre-loaded with serotonin at 100 μM for 6 hours.
Nakazawa Naomi, Yamamoto Kazumasa, Nagano Mutsumi, Oguro Kazuya, Nakanishi Nobuo, Hasegawa Hiroyuki   +5 more
doaj   +1 more source

Sepiapterin reductase inhibitors

Inhibitors of sepiapterin reductase and uses of sepiapterin reductase inhibitors in analgesia, treatment of acute and chronic pain, anti-inflammation, and immune cell regulation are disclosed.AVP-R-TTOLIPAlternative title(s) : (de) Heteroarylderivate ...
Gorska, Katarzyna Irena, Johnsson, Kai Peter, Meniconi, Mirco, Bromidge, Steven Mark, Kerry, Mark, Peng, Hairuo, Saiah, Eddine, Mccall, John Michael, Atton, Holly Victoria, Kotey, Adrian Kotei, Monck, Nathaniel J, Avery, Craig, Tebbe, Mark Joseph, Ridgill, Mark Peter, Tye, Heather   +14 more
core  

Tetrahydrobiopterin Synthesis in Rat Cardiac Myocytes; An Event Required for Cytokine-induced NO Generation

Pteridines, 1998
Cardiac myocytes are known to express the high-capacity inducible isoform of nitric oxide (NO) synthase (iNOS). Since tetrahydrobiopterin (BH4) is an essential cofactor for NO formation, we investigated whether BH4 synthesis is required for cytokine ...
Hattori Yoshiyuki, Nakanishi Nobuo, Gross Steven S., Kasai Kikuo   +3 more
doaj   +1 more source

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

, 2012
We report two siblings that presented hypotonia and very early-onset parkinsonism. Homozygosity mapping using SNP genome scan data identified a candidate locus that was 12.2 Mega base pairs.
Aslıhan Tolun, Hanagasi, Haşmet Ayhan, Çiğdem Köroğlu, Tasan, Ersan, Dursun, Burcu, Burcu Dursun, Erşan Taşan, Lohmann, Ebba, Ebba Lohmann, Hasmet A. Hanagasi, TOLUN, ASLIHAN, Koroglu, Cigdem   +11 more
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Modulation of inducible nitric oxide synthase mRNA stability by tetrahydrobiopterin in vascular smooth muscle cells.

, 1998
Tetrahydrobiopterin (BH4) regulates inducible nitric oxide synthase (iNOS) as cofactor and allosteric effector. The present paper describes a novel function of BH4 in vascular smooth muscle cells (SMC).
Schaffner A, Linscheid P, Schoedon G
core   +1 more source

A New Assay For 6-Pyruvoyl Tetrahydropterin Synthase From A Rat Kidney Model [PDF]

, 1988
The enzyme 6-pyruvoyl tetrahydropterin synthase (PTP synthase) is the second enzyme in a four - step pathway which leads to the production of tetrahydrobiopterin, the cofactor for aromatic amino acid hydroxylations.
Connolly, John
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