Results 11 to 20 of about 10,182 (138)
Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness [PDF]
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Tetrahydrobiopterin (BH4; sapropterin) responsiveness in phenylalanine hydroxylase (PAH) deficiency is genotype dependent, yet many patients remain untested. Allelic phenotype values (APV) summarize allele severity, but responsiveness can be heterogeneous within APV strata. We assessed whether integrating functional consequence annotation from
Nastassja Himmelreich, Nenad Blau
wiley +2 more sources
Tetrahydrobiopterin and Cardiovascular Disease [PDF]
Arteriosclerosis, Thrombosis, and Vascular Biology, 2006 Tetrahydrobiopterin (BH 4 ) is an essential cofactor for the aromatic amino acid hydroxylases, which are essential in the formation of neurotransmitters, and for nitric oxide synthase. It is presently used clinically to treat some forms of phenylketonuria (PKU) that can be ameliorated by BH 4
Moens, An L., Kass, David A.
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Biosynthesis of tetrahydrobiopterin in man [PDF]
Journal of Inherited Metabolic Disease, 1985 AbstractThe biosynthesis of tetrahydrobiopterin (BH4) from dihydroneopterin triphosphate (NH2P3) was studied in human liver extract. The phosphate‐eliminating enzyme (PEE) was purified ~750‐fold. The conversion of NH2P3 to BH4 was catalyzed by this enzyme in the presence of partially purified sepiapterin reductase, Mg2+ and NADPH.
Curtius, Hans-Christoph +5 more
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Hypertension, 2011 See related article, pp 287–294 Tetrahydrobiopterin (BH4), an essential cofactor for diverse cellular processes, is present in almost every cell or tissue of higher organisms. BH4 has well-defined functions in terms of enzymatic activities (BH4 is a crucial cofactor for the aromatic amino acid hydroxylases and all isoforms of nitric oxide synthase ...
Cynthia J. Meininger, Guoyao Wu
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Response of Phenylketonuria to Tetrahydrobiopterin [PDF]
The Journal of Nutrition, 2007 A favorable response, indicated by decline of blood phenylalanine (Phe) in patients with phenylketonuria (PKU), to orally administered 6-R-L-erythro-5, 6, 7, 8-tetrahydrobiopterin (BH4) has been reported in many countries following the first publication in 1999. In this review, we describe the experience in the United States with PKU patients and their
Kimberlee, Michals-Matalon +4 more
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Tetrahydrobiopterin and Cytokines
Experimental Biology and Medicine, 1993 Biosynthesis of tetrahydrobiopterin starts from guanosine triphosphate by the action of guanosine triphosphate cyclohydrolase I, which yields the first intermediate, 7,8-dihydroneopterin triphosphate. This compound is then converted by subsequent enzymes, 6-pyruvoyl tetrahydropterin synthase and sepiapterin reductase, to tetrahydrobiopterin, the ...
E R, Werner +2 more
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TETRAHYDROBIOPTERIN BIOSYNTHESIS [PDF]
, 1982 published
Curtius, Hans-Christoph +3 more
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Tetrahydrobiopterin in biomedical research [PDF]
Journal of Inherited Metabolic Disease, 2009 Tetrahydrobiopterin (BH4) is an endogenously synthesized cofactor, required for various enzyme activities and for some less well-defined functions. It is also required at the cellular level. The known enzymes that depend on BH4 are phenylalanine hydroxylase (PAH), tyrosine hydroxylase, tryptophan hydroxylases 1 and 2, all three types of nitric oxide ...
Blau, Nenad, Thöny, Beat
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Perspectives on tetrahydrobiopterin research.
Folia Pharmacologica Japonica, 2001 Tetrahydrobiopterin ((6R)-L-erythro-tetrahydrobiopterin, BH4) is de novo synthesized from GTP. Enzymes involved in its synthesis are the rate limiting enzyme GTP cyclohydrolase I, 6-pyruvoyl tetrahydropterin synthase (PTPS) and sepiapterin reductase. Abnormalities in the metabolism of BH4 have been demonstrated in some diseases affecting the central ...
SUMI-ICHINOSE, Chiho +3 more
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Tetrahydrobiopterin Biosynthesis in Man [PDF]
, 1986 published
Curtius, Hans-Christoph +3 more
openaire +2 more sources