Search results for "Pyridoxal phosphate"

showing 9 items of 9 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
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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)
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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
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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
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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
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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
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A simple high-performance liquid chromatography (HPLC) method for the measurement of pyridoxal-5-phosphate and 4-pyridoxic acid in human plasma.

2014

Abstract Background Low concentration of plasma pyridoxal-5-phosphate (PLP) is associated with hyperhomocysteinemia and inflammation. Most methods for the measurement of plasma PLP require large specimen volume and involve the use of toxic reagents. Methods We have developed a HPLC method for the measurement of PLP and 4-pyridoxic acid (4-PA) in plasma, which requires small specimen volume. The samples are prepared without adding any toxic reagents. Furthermore, we have examined whether intake of vitamin B 6 affects the concentration of plasma PLP and 4-PA. Results The coefficient of variation of the method was 6% and the recovery of the added vitamin in plasma was about 100%. The concentra…

VitaminVitamin bAdultMaleHyperhomocysteinemiaPyridoxal 5-PhosphatePyridoxic AcidAdolescentCoefficient of variationClinical BiochemistryBiochemistryHigh-performance liquid chromatographychemistry.chemical_compoundYoung AdultmedicineHumansHplc methodChromatography High Pressure LiquidAgedChromatographyBiochemistry (medical)General MedicineMiddle Agedmedicine.diseaseHealthy VolunteerschemistryPyridoxal PhosphateCalibrationlipids (amino acids peptides and proteins)FemaleBlood Chemical AnalysisPyridoxic AcidClinica chimica acta; international journal of clinical chemistry
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Histamine, histidine, and growth-phase mediated regulation of the histidine decarboxylase gene in lactic acid bacteria isolated from wine

2006

Fermented foods are frequently contaminated by histamine that is generated by microorganisms with histidine decarboxylase activity. The ingestion of large amounts of histamine can cause serious toxicological problems in humans. A study of the effects of histamine, histidine, and growth phase on histamine production by lactic acid bacteria isolated from wine is reported here. With northern blots and specific activity analysis, we observed that histidine induces the expression of the histidine decarboxylase gene (hdc) and that histamine causes a decrease in the expression of this gene. The expression of hdc is also mediated by the bacterial growth phase. Histidine and histamine do not affect …

WineHistidine DecarboxylaseMicrobiologyGene Expression Regulation EnzymologicMicrobiologychemistry.chemical_compoundLactobacillusGeneticsHistidinePediococcusMolecular BiologyHistamine ProductionHistidineHistamine N-methyltransferasebiologyfood and beveragesbiology.organism_classificationHistidine decarboxylaseGram-Positive CocciLactobacillusBiochemistrychemistryPyridoxal PhosphateHistidine decarboxylase activityPediococcusLeuconostocHistamineHistamineFEMS Microbiology Letters
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Evidence for essential primary amino groups in a bacterial coupling factor F1ATPase.

1980

Abstract We have found that the binding of pyridoxal-5′-phosphate to 6 primary amino groups leads to the inactivation of the enzyme. A preferential reaction of pyridoxal-5′-phosphate with the α-subunits of this enzyme can be demonstrated. The reactivity of the amino groups is influenced by various effectors. In the presence of ATP the inhibition of the ATPase activity is noncompetitive.

chemistry.chemical_classificationAdenosine TriphosphatasesPrimary (chemistry)Binding SitesChemistryStereochemistryEffectorCell MembraneBiophysicsCell BiologyBiochemistryMicrococcusCoupling (electronics)Structure-Activity RelationshipEnzymeBiochemistrySolubilityPyridoxal PhosphateAtpase activityReactivity (chemistry)Amino AcidsMolecular BiologyBiochemical and biophysical research communications
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