Results 21 to 30 of about 107,475 (169)

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase. [PDF]

Int J Mol Sci
Sepiapterin Reductase Deficiency (SRD) is a rare inherited neurometabolic disorder caused by variants in the SPR gene, which may lead to developmental delays, psychomotor retardation, and cognitive impairments. Two consanguineous North African and Middle
Mohamed FE, Alzyoud L, Ghattas MA, Tabouni M, Fienemann A, Trinh J, Baydoun I, Kizhakkedath P, Alblooshi H, Shaukat Q, Amouri R, Farrer MJ, Sassi SB, Al-Jasmi F.   +13 more
europepmc   +2 more sources

Sulfa drugs inhibit sepiapterin reduction and chemical redox cycling by sepiapterin reductase. [PDF]

J Pharmacol Exp Ther, 2015
Sepiapterin reductase (SPR) catalyzes the reduction of sepiapterin to dihydrobiopterin (BH2), the precursor for tetrahydrobiopterin (BH4), a cofactor critical for nitric oxide biosynthesis and alkylglycerol and aromatic amino acid metabolism. SPR also mediates chemical redox cycling, catalyzing one-electron reduction of redox-active chemicals ...
Yang S, Jan YH, Mishin V, Richardson JR, Hossain MM, Heindel ND, Heck DE, Laskin DL, Laskin JD.   +8 more
europepmc   +4 more sources

Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells. [PDF]

J Biol Chem, 2013
In the lung, chemical redox cycling generates highly toxic reactive oxygen species that can cause alveolar inflammation and damage to the epithelium, as well as fibrosis.
Yang S, Jan YH, Gray JP, Gray JP, Mishin V, Heck DE, Laskin DL, Laskin JD.   +7 more
europepmc   +2 more sources

Ethnic Bridging of Sepiapterin in Chinese and Korean Populations Based on Predictions From Genetic Polymorphism of Breast Cancer Resistance Protein. [PDF]

Clin Transl Sci
ABSTRACT Ethnic differences are crucial when considering the efficacy, safety, and dose of pharmaceuticals across diverse populations. The International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guideline E5 addresses the acceptability of extrapolating foreign clinical data taking ethnic factors into ...
Gao L, Smith N, Kong R.
europepmc   +2 more sources

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

Neurol Genet, 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 ...
Shalash AS, Rösler TW, Müller SH, Salama M, Deuschl G, Müller U, Opladen T, Petersen BS, Franke A, Hopfner F, Kuhlenbäumer G, Höglinger GU.   +11 more
europepmc   +3 more sources

A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF. [PDF]

J Inherit Metab Dis
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Christ S, Rossmann J, Richter S, Garbade S, Klinke G, Blau N, Hoffmann GF, Okun JG, Opladen T.   +8 more
europepmc   +2 more sources

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency

Clinica Chimica Acta, 2022
Sepiapterin reductase deficiency (SRD) causes central nervous system symptoms due to dopamine and serotonin depletion because sepiapterin reductase plays an important role in tetrahydrobiopterin biosynthesis. SRD cannot be detected by newborn screening because of the absent hyperphenylalaninemia.
Yuki, Hyodo, Tomoyuki, Akiyama, Tetsuhiro, Fukuyama, Masakazu, Mimaki, Keiko, Watanabe, Tadayuki, Kumagai, Katsuhiro, Kobayashi   +6 more
openaire   +3 more sources

Cloning and Sequencing of cDNA Encoding Human Sepiapterin Reductase [PDF]

Pteridines, 1991
Ichinose H., Katoh S., Sueoka T., Titani K., Fujita Κ., Nagatsu T.   +5 more
doaj   +2 more sources

Fragment-based discovery of novel potent sepiapterin reductase inhibitors

, 2019
Genome-wide-association studies in chronic low back pain patients identified sepiapterin reductase as a high interest target for developing new analgesics.
Alen, Jo (author), Bahrenberg, Gregor (author), Merla, Beatrix (author), Ratcliffe, Paul (author), Nordhoff, Sonja (author), Schade, Markus (author), Dunkern, Torsten R. (author), Wagener, Markus (author), Christian, Frank (author)   +8 more
core   +3 more sources

Tetrahydrobiopterin Uptake in Supplemental Administration: Elevation of Tissue Tetrahydrobiopterin in Mice Following Uptake of the Exogenously Oxidized Product 7,8-Dihydrobiopterin and Subsequent Reduction by an Anti-folate-Sensitive Process

Journal of Pharmacological Sciences, 2004
In order to increase the tissue level of tetrahydrobiopterin (BH4), supplementation with 6R-tetrahydrobiopterin (6RBH4) has been widely employed. In this work, the effectiveness of 6RBH4 was compared with 7,8-dihydrobiopterin (7,8BH2) and sepiapterin by ...
Keiko Sawabe, Kazunori Osuke Wakasugi, Hiroyuki Hasegawa   +2 more
doaj   +1 more source