Results 91 to 100 of about 2,210 (155)

Effect of sepiapterin and L-NAME on hypoxia-induced alterations of contraction to phenylephrine in intrapulmonary arteries.

, 2013
Contractile response to phenylephrine in intrapulmonary arteries from mice exposed to (A) normoxia (NX), (B) 10 days, (C) 21 days, and (D) 40 days of hypoxia (HX 10d, HX 21d and HX 40d, respectively), in the presence or absence of sepiapterin (10-4 M) or
Mathilde Dubois (264151), Ellen Closs (396015), Roger Marthan (261508), Christian Toussaint (490298), Arnaud Courtois (490301), Bernard Muller (252963), Huige Li (490297), Axel Gödecke (423281), Véronique Freund-Michel (490300), Jean-Pierre Savineau (261510), Estelle Delannoy (490296), Lucie Duluc (196214), Alain-Pierre Gadeau (490299)   +12 more
core   +1 more source

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

Background Phenylketonuria is an inherited condition characterised by neurotoxic accumulation of phenylalanine (Phe). APHENITY assessed the efficacy and safety of orally administered synthetic sepiapterin in children and adults with phenylketonuria ...
Margvelashvili, Lali, Lah, Melissa, Guilder, Laura, Chakrapani, Anupam, EZGÜ, FATİH SÜHEYL, MacDonald, Anita, Campistol Plana, Jaume, Schwartz, Ida Vanessa D., Guimas, Arlindo, Belanger-Quintana, Amaya, Guerra, Ixiu del Carmen Cabrales, Mungan, Halise Neslihan, Longo, Nicola, Muntau, Ania C., Ingalls, Kimberly, Zori, Roberto, Smith, Neil, Lund, Allan, Bratkovic, Drago, Kiykim, Ertugrul   +19 more
core   +2 more sources

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

, 2017
Objective:To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes.Methods:Rare variants in all coding ...
Ulrich Müller, Ali S. Shalash, Thomas Opladen, Mohamed Salama, Günther Deuschl, Franziska Hopfner, Gregor Kuhlenbäumer, Andre Franke, Britt-Sabina Petersen, Thomas W. Rösler, Stefanie H. Müller, Günter U. Höglinger   +11 more
core   +1 more source

6-Acetyldihydrohomopterin and sepiapterin affect some GTP cyclohydrolase I's and not others [PDF]

, 1988
The first enzyme in pteridine biosynthesis, GTP cyclohydrolase I, is a likely site for regulation of pteridine biosynthesis to occur. GTP cyclohydrolase I responds to hormonal treatment and is found altered in a variety of mice with genetically based ...
Jacobson, K. Bruce, Manos, Richard E.
core  

Control of pteridine biosynthesis in the natural killer-like cell line YT.

, 1991
The natural killer-like cell line YT constitutively expresses GTP-cyclohydrolase activity whereas 6-pyruvoyltetrahydropterin synthase and sepiapterin reductase are absent.
Yodoi, J., Schwulera, U., Schott, K., Ziegler, I.   +3 more
core   +1 more source

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia [PDF]

, 2017
Objective: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes.
Kuhlenbäumer, G, Rösler, TW, Opladen, T, Salama, M, Deuschl, G, Müller, U, Hopfner, F, Höglinger, GU, Franke, A, Shalash, AS, Müller, SH, Petersen, B-S   +11 more
core  

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial

AIM: AMPLIPHY is the first Phase 3 study comparing sepiapterin versus sapropterin in children and adults with phenylketonuria (PKU). METHODS: AMPLIPHY was an international, Phase 3, two-part, open-label study in participants with PKU aged ≥2 years ...
Peters, Heidi, Hughes, Catalina, Rutsch, Frank, Guilder, Laura, Maillot, François, Ingalls, Kim, Tchan, Michel, Inwood, Anita, Tyčová, Renáta, Chakrapani, Anupam, Bélanger-Quintana, Amaya, Vijay, Suresh, Giżewska, Maria, Venegas-Moreno, Eva Maria, Muntau, Ania C, Fjellbirkeland, Olivia, van Spronsen, Francjan, Grošelj, Urh, Potter, Murray, Zhao, Zhenming, Arnoux, Jean-Baptiste, Smith, Neil, Burlina, Alberto   +22 more
core   +1 more source

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

Global Medical Genetics
We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142.
Janhawi Kelkar, Miriam DiMaio, Deqiong Ma, Hui Zhang   +3 more
doaj   +1 more source

Tetrahydrobiopterin precursor sepiapterin provides protection against neurotoxicity of 1-methyl-4-phenylpyridinium in nigral slice cultures

, 2003
Udgivelsesdato: 2003-AprComplex-I inhibition and oxidative processes have been implicated in the loss of nigral dopamine neurones in Parkinson's disease and the toxicity of MPTP and its metabolite MPP+.
Gramsbergen, Jan Bert, Morten Meyer, Zimmer, Jens, Meyer, Morten, Jakob Torp Madsen, Christian Hesslinger, Jens Zimmer, Madsen, Jakob Torp, Jan Bert Gramsbergen, Hesslinger, Christian, Pernille Jansen, Jansen, Pernille   +11 more
core   +1 more source

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
core   +1 more source