A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF. [PDF]
J Inherit Metab DisABSTRACT 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 +8 more
europepmc +2 more sources
A model to understand type I oxidations of biomolecules photosensitized by pterins
Journal of Photochemistry and Photobiology, 2021 Photosensitized oxidations, in part responsible for the harmful effect of UV and visible radiation on biological systems, can take place through type I (generation of radicals) and type II (singlet oxygen) mechanisms.
Carolina Lorente +2 more
exaly +3 more sources
Comparative metabolism of conjugated and unconjugated pterins in Crithidia, Leishmania and African trypanosomes. [PDF]
PLoS Neglected Tropical DiseasesMammalian cells synthesise tetrahydrobiopterin de novo, an essential cofactor for hydroxylation of aromatic amino acids, cleavage of ether lipids and the synthesis of nitric oxide.
Han B Ong, Susan Wyllie, Alan H Fairlamb
doaj +2 more sources
Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review [PDF]
Children, 2023 6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat
Lucia Maria Sur +4 more
doaj +2 more sources
Pushing at the Boundaries of Pterin Chemistry [PDF]
MoleculesPterins are molecules of substantial interest as they occur in nature in a number of forms with quite distinct and often indispensable roles. Chemically, the synthesis of the principle pterin scaffold is comparably simple, while the insolubility of the ...
Jevy V. Correia +2 more
doaj +2 more sources
Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study [PDF]
ChildrenObjectives: To investigate the clinical value of cerebrospinal fluid (CSF) testing for biogenic amine, pterins, amino acids, and folates in paediatric onset epilepsies. Methods: Retrospective clinical and biochemical phenotyping of patients with epilepsy
Mario Mastrangelo +6 more
doaj +2 more sources
Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the <i>ADAR1</i> c.<i>3019G</i>>A Variant. [PDF]
Clin Case RepABSTRACT Aicardi–Goutières syndrome type 6 (AGS6) is a genetically determined autoinflammatory disorder, classically inherited in an autosomal recessive manner. We report a Czech child with a heterozygous ADAR1 NM_001111.5:c.3019G>A variant causing AGS6.
Turan K +11 more
europepmc +2 more sources
Autoxidation Kinetics of Tetrahydrobiopterin—Giving Quinonoid Dihydrobiopterin the Consideration It Deserves [PDF]
Molecules, 2023 In humans, tetrahydrobiopterin (H4Bip) is the cofactor of several essential hydroxylation reactions which dysfunction cause very serious diseases at any age.
Ayoub Boulghobra +7 more
doaj +2 more sources
Electron Transfer Initiated Reactions Photoinduced by Pterins
Pteridines, 2011 Interest in the photochemistry and photophysics of pterins has increased since the participation of this family of compounds in different photobiological processes has been suggested or demonstrated in recent decades.
Carolina Lorente +2 more
exaly +2 more sources
Pterin-Based Red Coloration Predicts the Outcome of Male–Male Competition in Guinan Toad-Headed Lizard [PDF]
AnimalsAnimal coloration offers a unique opportunity to explore the evolutionary mechanisms underlying phenotypic diversity. Conspicuous coloration caused by pigments plays a crucial role in social signaling across multiple species by conveying information ...
Xiao Xiao +8 more
doaj +2 more sources