Search results for "Pyridoxal"

showing 10 items of 16 documents

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

2019

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating sc…

0301 basic medicineMale[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyLOCAL TRANSLATIONMedizinmedicine.disease_causeDISEASEchemistry.chemical_compound0302 clinical medicinepolineuropathyCinètica enzimàticaGene Regulatory NetworksPyridoxal phosphateChildPyridoxal KinaseAdenosine triphosphate (ATP)Research ArticlesAged 80 and overMutationGene Regulatory NetworkPLASMAAutosomal recessive axonal polyneuropathyDisease gene identificationPyridoxal kinase3. Good healthSettore MED/26 - NEUROLOGIANeuropaties perifèriquesTreatment OutcomePolyneuropathieNeurologyChild PreschoolPyridoxal PhosphateRELIABILITYVitamin B ComplexFemaleLife Sciences & BiomedicinePolyneuropathyHumanResearch ArticleAdultAdolescentPDXKClinical NeurologyCHARCOT-MARIE-TOOTHCHARCOT-MARIE-TOOTH CMT NEUROPATHY SCORE LOCAL TRANSLATION DISEASE RELIABILITY; MECHANISMS DISCOVERY FRAMEWORK KINASE PLASMAMECHANISMS03 medical and health sciencesPolyneuropathiesAtrophy[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]KINASEmedicineHumansCMT NEUROPATHY SCOREPDXK mutationsPyridoxalDietary SupplementAgedPeripheral neuropathiesScience & Technology[SCCO.NEUR]Cognitive science/NeuroscienceEnzyme kineticsNeurosciencesFRAMEWORKmedicine.diseaseMolecular biology030104 developmental biologychemistryDISCOVERYDietary SupplementsMutationNeurosciences & NeurologyNeurology (clinical)Adenosine triphosphate030217 neurology & neurosurgeryAnnals of Neurology
researchProduct

Effect of Omega-3 and Vitamins E + C Supplements on the Concentration of Serum B-Vitamins and Plasma Redox Aminothiol Antioxidant Status in Elderly M…

2015

<b><i>Background:</i></b> Data on redox plasma aminothiol status in individuals on strength training are very limited. Therefore, we studied the effect of omega-3 and vitamins E + C supplementation on the concentration of B-vitamins and redox aminothiol status in elderly men after strength training for 3 months. <b><i>Methods:</i></b> Healthy men, age 60 ± 6 (mean ± SD) were randomly divided into 3 groups: group I received placebo (n = 17), group II consumed omega-3 (700 mg, n = 17), and group III consumed vitamins E + C (235 mg +1 g, n = 16) daily for 3 months. All participants completed a strength training program for the same period. <b&…

0301 basic medicineMalemedicine.medical_specialtyAntioxidantPyridoxalStrength trainingmedicine.medical_treatmentMedicine (miscellaneous)Ascorbic Acid030204 cardiovascular system & hematologyPlaceboAntioxidants03 medical and health scienceschemistry.chemical_compound0302 clinical medicineFolic AcidInternal medicineFatty Acids Omega-3medicineHumansVitamin ESulfhydryl CompoundsPyridoxalAgedNutrition and DieteticsVitamin EResistance TrainingVitaminsMiddle AgedAscorbic acidUric AcidB vitaminsVitamin B 12030104 developmental biologyEndocrinologyBiochemistrychemistryDietary SupplementsVitamin B ComplexUric acidAnnals of nutritionmetabolism
researchProduct

Structural Analysis of Phosphoserine Aminotransferase (Isoform 1) From Arabidopsis thaliana– the Enzyme Involved in the Phosphorylated Pathway of Ser…

2018

Phosphoserine aminotransferase (PSAT) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes the conversion of 3-phosphohydroxypyruvate (3-PHP) to 3-phosphoserine (PSer) in an L-glutamate (Glu)-linked reversible transamination reaction. This process proceeds through a bimolecular ping-pong mechanism and in plants takes place in plastids. It is a part of the phosphorylated pathway of serine biosynthesis, one of three routes recognized in plant organisms that yield serine. In this three-step biotransformation, 3-phosphoglycerate (3-PGA) delivered from plastidial glycolysis and Calvin cycle is oxidized by 3-PGA dehydrogenase. Then, 3-PHP is subjected to transamination with Glu to yi…

0301 basic medicineTransaminationpyridoxal 5′-phosphategeminal diaminePSATPlant Sciencelcsh:Plant cultureCofactorPLPSerine03 medical and health scienceschemistry.chemical_compoundBiosynthesisTransferaselcsh:SB1-1110Phosphoserine AminotransferaseOriginal Researchchemistry.chemical_classificationtransaminasebiologyserine metabolismPhosphoserine phosphatase030104 developmental biologychemistryBiochemistrybiology.proteinPhosphorylationFrontiers in Plant Science
researchProduct

Elevated plasma total homocysteine in centenarians

2004

Homocysteine (Hcy) is a sulfur-containing metabolite of methionine and is an emerging independent risk factor for atherosclerosis. Previous studies have shown that age, gender, renal function and folic acid intake are the main factors influencing total plasma Hcy levels in humans. A unique approach to the science of human longevity is the natural model of centenarians. The objective of this study was to verify whether the previously determined risk factors for atherosclerosis and atherosclerosis-related diseases change with age and, finally, to establish the vitamin nutritional status role. We studied 54 centenarians (14 males and 40 females) aged between 100-107 years (mean age 102.6+/-1.8…

AdultMaleGerontologyVitaminmedicine.medical_specialtyHomocysteineClinical BiochemistryRenal functionBiologychemistry.chemical_compoundFolic AcidInternal medicineBlood plasmamedicineHumansVitamin B12Risk factorAgedAged 80 and overCreatinineMethionineHomocystineBiochemistry (medical)General MedicineMiddle AgedCreatineVitamin B 12EndocrinologychemistryPyridoxal PhosphateRegression AnalysisFemaleClinical Chemistry and Laboratory Medicine (CCLM)
researchProduct

Zur Beeinflussung dekarboxylase-abh�ngiger Stoffwechselst�rungen durch Pyridoxal-5-phosphat

1966

Blood Chemical AnalysisPyridoxal 5-PhosphateBiochemistryChemistryGeneral MedicineEcology Evolution Behavior and SystematicsDie Naturwissenschaften
researchProduct

NEUROCHEMICAL STUDIES WITH L-CYCLOSERINE, A CENTRAL DEPRESSANT AGENT.

1963

CerebellumCarboxy-LyasesThalamusCaudate nucleusPharmacologyBiochemistryAminobutyric acidCellular and Molecular Neurosciencechemistry.chemical_compoundMiceNeurochemicalThalamusMesencephalonCerebellummedicineAnimalsPyridoxal phosphateEnzyme InhibitorsTransaminasesCerebral CortexPharmacologyAminobutyratesResearchCycloserineBrainNeurochemistryElectrophysiologymedicine.anatomical_structurechemistryCerebral cortexCycloserinePyridoxal PhosphateCaudate Nucleusmedicine.drugBrain StemJournal of neurochemistry
researchProduct

A model of stepwise isovolaemic blood exchange in anaesthetised, spontaneously breathing rats to evaluate the oxygen transport efficiency of artifici…

2000

Our research pursues the production of hypo-oncotic artificial oxygen carriers, based on artificial covalently cross-linked hyperpolymeric mammalian haemoglobins. To evaluate their in vivo efficiency in oxygen delivery to the tissue we developed a small animal model of stepwise isovolaemic blood exchange in anaesthetised, spontaneously breathing rats. With the aid of a two-way respiratory micro valve for small animals the overall oxygen uptake by the tissue of the animal can be determined. Measurements of oxygen contents in arterial and mixed venous blood and of some further blood parameters together with known oxygen-binding characteristics of artificial and native oxygen carriers, permits…

MaleMicro valveBiomedical Engineeringchemistry.chemical_elementOxygenRats Sprague-DawleyHemoglobinsOxygen ConsumptionIn vivoBlood SubstitutesAnimalsAnesthesiaRespiratory systemCardiac OutputHemodilutionBlood VolumeChemistryPulmonary Gas ExchangeRespirationOxygen transportBiological TransportOxygen uptakeRatsOxygenBiochemistryHematocritEvaluation Studies as TopicPyridoxal PhosphateBlood CirculationBiophysicsBreathingVascular ResistanceHemoglobinPulmonary VentilationBiotechnologyArtificial cells, blood substitutes, and immobilization biotechnology
researchProduct

A bioinformatical approach suggests the function of the autoimmune hepatitis target antigen soluble liver antigen/liver pancreas

2001

Antibodies to a soluble liver antigen/liver pancreas (SLA/LP) appear to be highly specific for the diagnosis of autoimmune hepatitis. The SLA/LP target antigen was recently identified as a hitherto unknown gene encoding 474 amino acid residues. The function of this antigen remains unclear, because it does not share sequence homology with proteins of known function stored in any of the publicly accessible databases. Therefore we used a new theoretical method called fold recognition and could show that the SLA/LP sequence is compatible with the architecture of the superfamily of pyridoxal phosphate (PLP; vitamin B6)-dependent transferases. Its function is likely to be that of a serine hydroxy…

Models MolecularAutoimmune diseaseHepatitisHepatologySelenocysteineMolecular Sequence DataComputational BiologyAutoimmune hepatitisBiologymedicine.diseaseAutoantigensHepatitis Autoimmunechemistry.chemical_compoundchemistryBiochemistryAntigenSerine hydroxymethyltransferasebiology.proteinmedicineHumansAmino Acid SequenceAntibodyPyridoxal phosphateHepatology
researchProduct

NEUROPHYSIOLOGICAL AND NEUROCHEMICAL STUDIES WITH THE ISONICOTINOYLHYDRAZONE OF PYRIDOXAL 5-PHOSPHATE.

1964

Pyridoxal 5-PhosphateBrain chemistryCarboxy-LyasesBiochemistryCellular and Molecular Neurosciencechemistry.chemical_compoundNeurochemicalMesencephalonSeizuresCerebellumPonsIsoniazidPyridoxal phosphateTransaminasesBrain ChemistryPharmacologyMedulla OblongataGallamine TriethiodideChemistryAminobutyratesResearchBrainFrontal LobeElectrophysiologyBiochemistryPyridoxal PhosphateCatsJournal of neurochemistry
researchProduct

CCDC 668761: Experimental Crystal Structure Determination

2009

Related Article: S.Floquet, M.C.Munoz, R.Guillot, E.Riviere, G.Blain, J.-A.Real, M.-L.Boillot|2009|Inorg.Chim.Acta|362|56|doi:10.1016/j.ica.2008.02.057

Space GroupCrystallographyCrystal System(Hydrogen pyridoxal thiosemicarbazonato-NOS)-(pyridoxal thiosemicarbazonato-NOS)-iron(iii) hydrateCrystal StructureCell ParametersExperimental 3D Coordinates
researchProduct