Results 131 to 140 of about 107,475 (169)

Sepiapterin reductase deficiency: Report of 5 new cases

European Journal of Paediatric Neurology, 2017
Sepiapterin reductase deficiency is a rare, under-recognized, autosomal recessively inherited disorder of neurotransmitter metabolism.Five new patients from 3 unrelated Saudi consanguineous families are reported. Symptoms began at 6 months, with delay to diagnosis averaging 8 years.
Brahim Tabarki, Saad Alshahwan
exaly   +3 more sources

Sepiapterin reductase in cultured human cells

Biochemical and Biophysical Research Communications, 1987
Sepiapterin reductase, an enzyme involved in the synthesis of tetrahydrobiopterin (the natural cofactor for phenylalanine, tyrosine and tryptophan hydroxylases), has been assayed in cultured human amniotic fibroblasts and in cultured mononuclear blood cells.
J, Ferré, E W, Naylor
openaire   +2 more sources

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

Annals of Neurology, 2012
AbstractObjective:Sepiapterin reductase deficiency (SRD) is an under‐recognized levodopa‐responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. We aim to improve awareness of the phenotype and available diagnostic and therapeutic strategies to reduce delayed diagnosis or ...
Friedman, Jennifer, Roze, Emmanuel, Abdenur, Jose E, Chang, Richard, Gasperini, Serena, Saletti, Veronica, Wali, Gurusidheshwar M, Eiroa, Hernan, Neville, Brian, Felice, Alex, Parascandalo, Ray, Zafeiriou, Dimitrios I, Arrabal-Fernandez, Luisa, Dill, Patricia, Eichler, Florian S, Echenne, Bernard, Gutierrez-Solana, Luis G, Hoffmann, Georg F, Hyland, Keith, Kusmierska, Katarzyna, Tijssen, Marina A J, Lutz, Thomas, Mazzuca, Michel, Penzien, Johann, Poll-The, Bwee Tien, Sykut-Cegielska, Jolanta, Szymanska, Krystyna, Thöny, Beat, Blau, Nenad   +28 more
openaire   +4 more sources

Localization of sepiapterin reductase in the human brain

Brain Research, 2002
Sepiapterin reductase (SPR) is the enzyme that catalyzes the final step of the synthesis of tetrahydrobiopterin (BH4), the cofactor for phenylalanine hydroxylase, tyrosine hydroxylase (TH), tryptophan hydroxylase, and nitric oxide synthase (NOS). Although SPR is essential for synthesizing BH4, the distribution of SPR in the human brain has not yet been
K. Ikemoto, T. Suzuki, H. Ichinose, T. Ohye, A. Nishimura, K. Nishi, I. Nagatsu, T. Nagatsu   +7 more
openaire   +2 more sources

Virtual screening to identify potent sepiapterin reductase inhibitors

Bioorganic and Medicinal Chemistry Letters, 2020
Sepiapterin reductase has been identified as a potential drug target for neuropathic and inflammatory pain. Virtual screening was executed against a publicly available x-ray crystal structure of sepiapterin reductase. A set of structurally diverse and potent sepiapterin reductase inhibitors was identified.
Brian A Sparling, Kevin Wang
exaly   +3 more sources

Purification and characterization of sepiapterin reductase from rat erythrocytes

Biochimica Et Biophysica Acta - General Subjects, 1982
Sepiapterin reductase from rat erythrocyte hemolysate was purified 2000-fold to apparent homogeneity with 30% yield. The specific activity of the purified enzyme was 18 units/mg protein, and its molecular weight was 55 000. The enzyme consists of two identical subunits, each of which has a molecular weight of 27 500.
T Sueoka, S Katoh
exaly   +3 more sources

Sepiapterin reductase and the biosynthesis of tetrahydrobiopterin in Drosophila melanogaster

Insect Biochemistry and Molecular Biology, 1994
Ammonium sulfate fractionation and standard column chromatography techniques have been used to purify the enzyme sepiapterin reductase to electrophoretic homogeneity from pupae of Drosophila melanogaster. This purification constitutes a 1000-fold increase in the specific activity of the enzyme.
J P, Primus, G M, Brown
openaire   +2 more sources

Determination of Sepiapterin and Sepiapterin Reductase in Human Skin

2002
In the pigmentary disorder vitiligo the epidermal pteridine metabolism is altered concomitantly with highly increased levels of H2O in the millimolar range. The epidermal de novo and recycling biosynthetic pathway of tetrahydrobiopterin shows increased GTP-CH I activity, reduced 4a-OH-tetrahydrobiopterin dehydratase and phenylalanine hydroxylase ...
H Rokos, W Beazley, L Maries, K U Schallreuter   +3 more
openaire   +1 more source

Sepiapterin reductase exhibits a NADPH-dependent dicarbonyl reductase activity

Biochemical and Biophysical Research Communications, 1984
We have found a new ability of sepiapterin reductase, which has been known to show a strict substrate specificity for the 6-lactyl sidechain of sepiapterin to produce 6-dihydroxypropyl sidechain of dihydrobiopterin in the biosynthesis of tetrahydrobiopterin, to reduce many dicarbonyl compounds with NADPH as effectively utilized substrates.
S, Katoh, T, Sueoka
openaire   +2 more sources

On the role of sepiapterin reductase in the biosynthesis of tetrahydrobiopterin

Archives of Biochemistry and Biophysics, 1987
Rat erythrocyte sepiapterin reductase can catalyze the NADPH-dependent reduction of tetrahydropterin substrates with relative velocities of sepiapterin greater than lactoyltetrahydropterin greater than or equal to pyruvoyltetrahydropterin greater than 1'-hydroxy-2'-oxopropyltetrahydropterin; L-erythrotetrahydrobiopterin is the product of the reduction ...
openaire   +2 more sources