Results 81 to 90 of about 107,475 (169)

Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis.

, 1991
New catalytic functions of human carbonyl- and aldose reductase in tetrahydrobiopterin biosynthesis are proposed. 6-Pyruvoyl tetrahydropterin, an intermediate in the biosynthesis of tetrahydrobiopterin, was converted to 6-lactoyl tetrahydropterin and 1 ...
Park YS, Guzman J, Blau N, Wermuth B, Heizmann CW, Steinerstauch P, Levine RA   +6 more
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Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency

, 2012
Sepiapterin reductase deficiency (SRD) is a dopa-sensitive neurotransmitter disorder, caused by mutation of the SPR gene located on chromosome 2p14-p12.1 To date, 31 patients with 14 mutations have been diagnosed (BIODEF database, update November 2010 ...
Somerville, A, Thöny, B; https://orcid.org/, Weber, P, Wagner, M, Dill, P, Blau, N, Blau N, Dill P, Wagner M, Somerville A, Weber P, Thöny B   +11 more
core   +1 more source

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency

, 2001
DOPA responsive dystonia (DRD) and sepiapterin reductase (SR) deficiency are inherited disorders of tetrahydrobiopterin (BH4) metabolism characterized by the signs and symptoms related to monoamine neurotransmitter deficiency.
Thony, B., Blau, N., Bonafe, L.
core   +1 more source

Sepiapterin reductase promotes hepatocellular carcinoma progression via FoxO3a/Bim signaling in a nonenzymatic manner. [PDF]

Cell Death Dis, 2020
Wu Y, Du H, Zhan M, Wang H, Chen P, Du D, Liu X, Huang X, Ma P, Peng D, Sun L, Yuan S, Ding J, Lu L, Jiang J.   +14 more
europepmc   +1 more source

Rapid Important Paper : Biosynthesis of Tetrahydrobiopterin: Possible Involvement of tTetrahydropterin Intermediates

, 1984
The biosynthetic pathway of tetrahydrobiopterin (BH4) from dihydroneopterin triphosphate (NH2P3) was studied in fresh as well as heat-treated human liver extracts. The question of NAD(P)H dependency for the formation of sepiapterin was examined.
Heintel, Dorothee, Curtius, Hans-Christoph, Niederwieser, Alois, Ghisla, Sandro, Levine, Robert A., Curtius HC, Heintel D, Ghisla S, Levine RA, Niederwieser A   +9 more
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Tissue Expression Of The 6-Pyruvoyi Tetrahydropterin Synthase Gene In Adult Zebrafish,Danio Rerio. [PDF]

, 2004
Teleost is one of the poikilotherms that can display different kind of colours on their body. This is due to the presence of different types of chromatophores, a group of pigment containing cells that is distributed in the epidermal layer of skin and ...
Tengku Muhammad, Tengku Sifzizul, Chan, Woon Khiong, Kuah, Meng Kiat, Chong, Alexander   +3 more
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Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up

, 2009
Sepiapterin reductase (SR) catalyses the last step in the tetrahydrobiopterin biosynthesis pathway; it converts 6-pyruvoyl-tetrahydropterin (6-PTP) to BH(4) in an NADPH-dependent reaction.
Kusmierska, K, Jansen, E E W, Meilei, D, Tryfon, J, Malunowicz, E, Rokicki, D, Pronicka, E, Sykut-Cegielska, J, Szymanska, K, Jakobs, C, Thony, B; https://orcid.org/, Blau, N   +11 more
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Tetrahydrobiopterin biosynthesis : Studies with specifically labeled (2H)NAD(P)H and 2H2O and of the enzymes involved

, 1985
The biosynthesis of tetrahydrobiopterin from either dihydroneopterin triphosphate, sepiapterin, dihydrosepiapterin or dihydrobiopterin was investigated using extracts from human liver, dihydrofolate reductase and purified sepiapterin reductase from human
Heintel, Dorothee, Curtius, Hans-Christoph, Leimbacher, Walter, Niederwieser, Alois, Kuster, Thomas, Ghisla, Sandro   +5 more
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Sepiapterin Reductase Inhibition Leading to Selective Reduction of Inflammatory Joint Pain in Mice and Increased Urinary Sepiapterin Levels in Humans and Mice. [PDF]

Arthritis Rheumatol, 2020
Fujita M, Scheffer DDL, Turnes BL, Cronin SJF, Latrémolière A, Costigan M, Woolf CJ, Latini A, Andrews NA.   +8 more
europepmc   +1 more source

Sepiapterin reductase 결핍에 대한 생쥐 모델

, 2006
학위논문(박사) - 한국과학기술원 : 생명과학과, 2006.2, [ vii, 116 p. ]Tetrahydrobiopterin $(BH_4)$ is an essential cofactor for several enzymes, including all three forms of nitric oxide synthases, phenylalanine-4-hydroxylase, tryptophan-5-hydroxylase, tyrosine-3 ...
양승경, Yang, Seung-Kyoung
core