Results 91 to 100 of about 23,011 (262)

Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: Implications for tetrahydrobiopterin‐responsive hyperphenylalaninemia

FEBS Letters, 2004
The natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as being essential in catalysis. BH4‐responsive PAH deficiency is a variant of hyperphenylalaninemia or phenylketonuria (PKU) caused by mutations in the human PAH gene that respond to oral BH4 loading by stimulating enzyme activity ...
Thöny, Beat, Ding, Zhaobing, Martı́nez, Aurora   +2 more
openaire   +2 more sources

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Tyrosine hydroxylase (TH) catalyses the rate‐limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrine in the central nervous system (CNS), presenting along a continuous spectrum from mild to severe forms ...
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, Roser Pons, Toni S. Pearson, Kathrin Jeltsch, Ivana Badnjarevic, Tessa Wassenberg, Gabriella Horvath, Galina Stevanovic, Manju A. Kurian, Elisenda Cortès‐Saladelafont, Agathe Roubertie, Vincenzo Leuzzi, Mariarita Bertoldi, Mario Mastrangelo, Birgit Assmann, THD Guidelines Working Group, Ines Denzler, Clarisa Maxit, Natalia Alexandra Julia‐Palacios, Shekeeb Mohammad, Helly Goez, Wai‐Ian Yeung, Tomáš Honzík, Ivana Kavecan, Alba Tristán‐Noguero, Alberto Burlina, Daniela Gueraldi, Sushil Bandodkar, Willemsen Michel, Francesco Porta, Sheila Wong, Filippo Manti, Reem Alkhater, Chris Mühlhausen, Alice Kuster, Dimitrios Zafeiriou, Paulo Sgobbi, Wladimir Bocca Vieira de Rezende Pinto, Angeles Garcia‐Cazorla, Thomas Opladen   +41 more
wiley   +1 more source

Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation [PDF]

Journal of Medical Biochemistry, 2009
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine ...
Pavlović Sonja, Stojiljković Maja
doaj  

Tetrahydrobiopterin protects soluble guanylate cyclase against oxidative inactivation

Pteridines, 2013
Tetrahydrobiopterin (BH4) is a major endogenous vasoprotective agent that improves endothelial function by increasing nitric oxide (NO) synthesis and scavenging of superoxide and peroxynitrite.
Schmidt Kurt, Werner Ernst R., Mayer Bernd   +2 more
doaj   +1 more source

Kynurenine, Tetrahydrobiopterin, and Cytokine Inflammatory Biomarkers in Individuals Affected by Diabetic Neuropathic Pain

Frontiers in Neuroscience, 2020
Neuropathic pain is a common complication of diabetes with high morbidity and poor treatment outcomes. Accumulating evidence suggests the immune system is involved in the development of diabetic neuropathy, whilst neuro-immune interactions involving the ...
Ananda Staats Pires, Ananda Staats Pires, Benjamin Heng, Vanessa X. Tan, Alexandra Latini, Marc A. Russo, Marc A. Russo, Danielle M. Santarelli, Dominic Bailey, Katie Wynne, Katie Wynne, Jayden A. O’Brien, Gilles J. Guillemin, Paul J. Austin   +13 more
doaj   +1 more source

First insights into structure-function relationships of alkylglycerol monooxygenase [PDF]

, 2017
Alkylglycerol monooxygenase is a tetrahydrobiopterin-dependent enzyme that cleaves the O-alkyl-bond of alkylglycerols. It is an exceptionally unstable, hydrophobic membrane protein which has never been purified in active form.
Fuchs, Julian E., Golderer, Georg, Hermetter, Albin, Hulo, Nicolas, Keller, Markus A., Watschinger, Katrin, Werner, Ernst R., Werner-Felmayer, Gabriele, Yarov-Yarovoy, Vladimir   +8 more
core  

Tetrahydrobiopterin in phenylketonuria: Who can benefit? [PDF]

, 2020
Phenylketonuria, abbreviated PKU, is a rare inherited metabolic disease. In this disease, a building block of protein (an amino acid) called phenylalanine cannot be converted to tyrosine. This results in high phenylalanine concentrations in blood and brain. If left untreated, this especially results in severe developmental delay as well as epilepsy and
openaire   +2 more sources

Three classes of tetrahydrobiopterin-dependent enzymes

Pteridines, 2013
Current knowledge distinguishes three classes of tetrahydrobiopterin-dependent enzymes as based on protein sequence similarity. These three protein sequence clusters hydroxylate three types of substrate atoms and use three different forms of iron for ...
Werner Ernst R.
doaj   +1 more source

Early Diagnosis of 6-Pyruvoyl-tetrahydropterin Synthase Deficiency

Pteridines, 1994
6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, which used to be called dihydrobiopterin synthase deficiency, is the most common kind of tetrahydrobiopterin deficiency. Early treatment by administration of tetrahydrobiopterin and neurotransmitter
Shintaku Haruo
doaj   +1 more source

Stimulation of Tetrahydrobiopterin Synthesis by 17β-Estradiol in Brain Microvascular Endothelial Cells

Pteridines, 2000
The purpose of this study was to examine whether 17β-estradiol stimulates the synthesis of tetrahydrobiopterin : BH4), which is one of the cofactors of nitric oxide (NO) synthase, in mouse brain microvascular endothelial cells. Addition of 17()-estradiol
Shiota Kazuhiro, Ishii Masakazu, Yamamoto Toshinori, Shimizu Shunichi, Kiuchi Yuji   +4 more
doaj   +1 more source