Search results for "1312 Molecular Biology"

showing 10 items of 45 documents

The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle

2015

12 páginas, 4 figuras, 2 tablas.

Conformational changeCarbamoyl-Phosphate Synthase I Deficiency DiseaseAllosteric regulationCarbamoyl-Phosphate Synthase (Ammonia)Urea cycle diseases610 Medicine & healthBiologyMolecular Dynamics Simulationurologic and male genital diseases03 medical and health sciences0302 clinical medicineGlutamates1311 GeneticsAmmoniaEnzyme StabilityGeneticsmedicine1312 Molecular BiologyHumansUreaHyperammonemiaSite-directed mutagenesisMolecular Biology030304 developmental biologychemistry.chemical_classification0303 health sciencesSite-directed mutagenesisurogenital systemMutagenesisCarbamoyl phosphate synthetase 1HyperammonemiaCarbamoyl phosphate synthetasemedicine.diseaseAllosteric regulation3. Good healthProtein Structure TertiaryRestrained molecular dynamicsKineticsEnzymeBiochemistrychemistry10036 Medical ClinicEnzymeUrea cycleMutationInborn errors030217 neurology & neurosurgerySignal Transduction
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Isolation and characterization of a cDNA encoding rat liver cytosolic epoxide hydrolase and its functional expression in Escherichia coli.

1993

A cDNA of 1992 base pairs encoding the complete rat liver cytosolic epoxide hydrolase has been isolated using a polymerase chain reaction-derived DNA fragment (Arand, M., Knehr, M., Thomas, H., Zeller, H. D., and Oesch, F. (1991) FEBS Lett. 294, 19-22) known to represent the 3'-end of the cytosolic epoxide hydrolase mRNA. Sequence analysis revealed an open reading frame of 1662 nucleotides corresponding to 554 amino acids (M(r) = 62,268). The DNA sequence obtained did not display significant homology to the sequences of microsomal epoxide hydrolase or leukotriene A4 hydrolase or to any other DNA included in the EMBL Data Bank (release 32). On Northern blotting of rat liver RNA, a single mRN…

Epoxide hydrolase 2Male1303 BiochemistryBase pairMolecular Sequence DataRestriction Mapping10050 Institute of Pharmacology and Toxicology610 Medicine & healthBiologyBiochemistryLeukotriene-A4 hydrolase1307 Cell BiologyRats Sprague-Dawleychemistry.chemical_compoundCytosolFenofibrateComplementary DNA1312 Molecular BiologyEscherichia coliAnimalsAmino Acid SequenceCloning MolecularEpoxide hydrolaseMolecular BiologyPeroxisomal targeting signalEpoxide HydrolasesBase SequenceCell BiologyDNABlotting NorthernMolecular biologyRatschemistryBiochemistryLiverMicrosomal epoxide hydrolase570 Life sciences; biologyDNAThe Journal of biological chemistry
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RISK OF CARDIOVASCULAR DISEASE MORBIDITY AND MORTALITY IN FRAIL AND PRE-FRAIL OLDER ADULTS:RESULTS FROM A META-ANALYSIS AND EXPLORATORY META-REGRESSI…

2017

Frailty is common and associated with poorer outcomes in the elderly, but its role as potential cardiovascular disease (CVD) risk factor requires clarification. We thus aimed to meta-analytically evaluate the evidence of frailty and pre-frailty as risk factors for CVD. Two reviewers selected all studies comparing data about CVD prevalence or incidence rates between frail/pre-frail vs. robust. The association between frailty status and CVD in cross-sectional studies was explored by calculating and pooling crude and adjusted odds ratios (ORs)+/- 95% confidence intervals (CIs); the data from longitudinal studies were pooled using the adjusted hazard ratios (HRs). Eighteen cohorts with a total …

GerontologyAging1303 Biochemistry030204 cardiovascular system & hematologyBiochemistry0302 clinical medicineRisk Factorscardiovascular diseasePrevalenceMedicine030212 general & internal medicineCardiovascular disease; Frailty; Meta-analysis; Aged; Frail Elderly; Humans; Prevalence; Risk Assessment; Risk Factors; Cardiovascular Diseases; Biotechnology; Biochemistry; Aging; Molecular Biology; NeurologyOXIDATIVE STRESSProspective cohort studyELDERLY-PATIENTSPOPULATIONeducation.field_of_studyFrailtyHazard ratioMENASSOCIATION16. Peace & justiceCardiovascular disease3. Good healthMIDLIFE OBESITYNeurologyCardiovascular DiseasesMeta-analysis1305 BiotechnologyRisk assessmentCardiovascular disease; Frailty; Meta-analysis; Aged; Frail Elderly; Humans; Prevalence; Risk Assessment; Risk Factors; Cardiovascular DiseasesBiotechnologymedicine.medical_specialtyWOMENS-HEALTHFrail ElderlyPopulationCardiovascular disease; Frailty; Meta-analysis; Biotechnology; Biochemistry; Aging; Molecular Biology; Neurology610 Medicine & healthfrailtyFrailty Cardiovascular disease Meta-analysisRisk AssessmentArticle03 medical and health sciences1302 AgingInternal medicine1312 Molecular BiologyHumansCORONARY-HEART-DISEASERisk factorFrailty cardiovascular disease meta-analysiseducationMolecular BiologyAgedbusiness.industryAGE FRAILTYOdds ratio10060 Epidemiology Biostatistics and Prevention Institute (EBPI)Confidence intervalmeta-analysisMeta-analysis3121 General medicine internal medicine and other clinical medicine2808 NeurologyFOLLOW-UPbusiness
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The catalytic activity of the endoplasmic reticulum-resident protein microsomal epoxide hydrolase towards carcinogens is retained on inversion of its…

1996

Diol epoxides formed by the sequential action of cytochrome P-450 and the microsomal epoxide hydrolase (mEH) in the endoplasmic reticulum (ER) represent an important class of ultimate carcinogenic metabolites of polycyclic aromatic hydrocarbons. The role of the membrane orientation of cytochrome P-450 and mEH relative to each other in this catalytic cascade is not known. Cytochrome P-450 is known to have a type I topology. According to the algorithm of Hartman, Rapoport and Lodish [(1989) Proc. Natl. Acad. Sci. U.S.A. 86, 5786–5790], which allows the prediction of the membrane topology of proteins, mEH should adopt a type II membrane topology. Experimentally, mEH membrane topology has been …

GlycosylationGlycosylation1303 BiochemistryCytochromeStereochemistryMolecular Sequence Data10050 Institute of Pharmacology and Toxicology610 Medicine & healthEndoplasmic ReticulumBiochemistryCatalysis1307 Cell Biologychemistry.chemical_compoundEndoglycosidase H1312 Molecular BiologyAnimalsAmino Acid SequenceBenzopyrenesMolecular BiologyEpoxide HydrolasesbiologyEndoplasmic reticulumCell BiologyIntracellular MembranesRecombinant ProteinsRatsCytosolMembranechemistryMicrosomal epoxide hydrolaseMembrane topologyCOS Cellsbiology.proteinCarcinogensMutagenesis Site-Directed570 Life sciences; biologyResearch Article
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Loss of all three APP family members during development impairs synaptic function and plasticity, disrupts learning, and causes an autism-like phenot…

2021

The key role of APP for Alzheimer pathogenesis is well established. However, perinatal lethality of germline knockout mice lacking the entire APP family has so far precluded the analysis of its physiological functions for the developing and adult brain. Here, we generated conditional APP/APLP1/APLP2 triple KO (cTKO) mice lacking the APP family in excitatory forebrain neurons from embryonic day 11.5 onwards. NexCre cTKO mice showed altered brain morphology with agenesis of the corpus callosum and disrupted hippocampal lamination. Further, NexCre cTKOs revealed reduced basal synaptic transmission and drastically reduced long-term potentiation that was associated with reduced dendritic length …

Male10017 Institute of AnatomyLong-Term PotentiationHippocampal formationSynaptic TransmissionAmyloid beta-Protein Precursor0302 clinical medicine2400 General Immunology and MicrobiologyAmyloid precursor proteinMolecular Biology of DiseaseAutism spectrum disorderMice KnockoutNeurons0303 health sciencesbiologyBehavior AnimalGeneral NeuroscienceBrain2800 General NeuroscienceLong-term potentiationArticlesPhenotype10076 Center for Integrative Human PhysiologyKnockout mouseFemalelearning and memory610 Medicine & healthGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesProsencephalon1300 General Biochemistry Genetics and Molecular Biologymental disorders1312 Molecular BiologyAnimalsLearningAPLP1Autistic DisorderSocial BehaviorMolecular BiologyAPLP2CA1 Region Hippocampal030304 developmental biologysynaptic plasticityGeneral Immunology and MicrobiologyAmyloid precursor proteinSynaptic plasticityForebrainSynapsesbiology.proteinAlzheimer570 Life sciences; biologyNeuroscience030217 neurology & neurosurgeryNeuroscienceThe EMBO journal
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Induction of the peroxisome proliferator activated receptor by fenofibrate in rat liver

1992

AbstractThe process of peroxisome proliferation in rodent liver by hypolipidemic compounds and related substances has recently been shown to be receptor-madiated. In the present study, we have examined the effect of oral administration of the strong peroxisome proliferator fenofibrate on the hepatic expression level of the peroxisome proliferator activated receptor (PPAR) in rats. Immunoblots of rat liver cytosols and nuclear extracs using antibodies raised against recombinant PPAR/β-galactosidase fusion proteins revealed a pronounced increase in the amount of PPAR protein in response to fenofibrate treatment. This induction could also be confirmed at the level or RNA by Northern blotting. …

Male1303 BiochemistryReceptors Cytoplasmic and Nuclear10050 Institute of Pharmacology and ToxicologyPeroxisome proliferator-activated receptorPPARMicrobodiesPolymerase Chain ReactionBiochemistryPPAR agonist1307 Cell BiologyMiceCytosol1315 Structural BiologyFenofibrateStructural Biologychemistry.chemical_classificationMice Inbred BALB CFenofibrateOligodeoxyribonucleotidesPeroxisome proliferator-activated receptor alphaFusion proteinmedicine.drugmedicine.medical_specialtyPeroxisome proliferator-activated receptor gammamRNAMolecular Sequence DataBiophysicsPeroxisome ProliferationReceptors Cell Surface610 Medicine & healthBiology1311 GeneticsInternal medicine1312 Molecular BiologyGeneticsmedicineAnimalsNorthern blotMolecular BiologyAntibodyHypolipidemic compoundCell NucleusMessenger RNABase SequenceImmune SeraCell BiologyBlotting NorthernRatsMice Inbred C57BLEndocrinologychemistry570 Life sciences; biologyTranscription Factors1304 BiophysicsFEBS Letters
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The Anti-amyloid Compound DO1 Decreases Plaque Pathology and Neuroinflammation-Related Expression Changes in 5xFAD Transgenic Mice

2018

Self-propagating amyloid-β (Aβ) aggregates or seeds possibly drive pathogenesis of Alzheimer's disease (AD). Small molecules targeting such structures might act therapeutically in vivo. Here, a fluorescence polarization assay was established that enables the detection of compound effects on both seeded and spontaneous Aβ42 aggregation. In a focused screen of anti-amyloid compounds, we identified Disperse Orange 1 (DO1) ([4-((4-nitrophenyl)diazenyl)-N-phenylaniline]), a small molecule that potently delays both seeded and non-seeded Aβ42 polymerization at substoichiometric concentrations. Mechanistic studies revealed that DO1 disrupts preformed fibrillar assemblies of synthetic Aβ42 peptides …

MaleGenetically modified mouse1303 BiochemistryAmyloid10017 Institute of AnatomyClinical BiochemistryMice TransgenicPlaque Amyloid610 Medicine & healthBiologyProtein aggregation1308 Clinical Biochemistry01 natural sciencesBiochemistryPolymerizationPathogenesisMiceProtein AggregatesStructure-Activity RelationshipAlzheimer DiseaseGene expressionDrug Discovery1312 Molecular BiologyAnimalsColoring AgentsMolecular BiologyNeuroinflammationInflammationPharmacologyAmyloid beta-PeptidesDose-Response Relationship DrugMolecular Structure010405 organic chemistry3002 Drug DiscoveryBrainSmall moleculeMolecular medicine0104 chemical sciencesCell biologyMice Inbred C57BL3004 Pharmacology10036 Medical Clinic1313 Molecular Medicine570 Life sciences; biologyMolecular MedicineFemaleAzo Compounds
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A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16

2008

As part of the International Multi-centre ADHD Gene (IMAGE) project we have completed an affected sibling pair study of 142 narrowly defined DSM-IV combined type ADHD proband-sibling pairs. We found suggestive linkage on chromosomes 9 and 16 with non-parametric multipoint peak LOD scores of 2.13 and 3.1 respectively. There have been several previous ADHD linkage scans. The UCLA study (Fisher et al. 2002; Ogdie et al. 2004; Ogdie et al. 2003), the Dutch study (Bakker et al. 2003), the German study (Hebebrand et al. 2006) and the MGH Study (Faraone et al., submitted) applied the affected sib pair (ASP) strategy; the Columbian study used extended pedigrees ascertained from a population isolate…

MaleGenetics and epigenetic pathways of disease [NCMLS 6]GENOMEWIDE SCANMedizin2804 Cellular and Molecular NeuroscienceCHILDRENComorbidityNeuroinformatics [DCN 3]Severity of Illness IndexDevelopmental psychology2738 Psychiatry and Mental Health0302 clinical medicinePerception and Action [DCN 1]HETEROGENEITYIsraelChildGeneticsObserver Variation0303 health sciencesATTENTION-DEFICIT/HYPERACTIVITY DISORDERPSYCHIATRIC-DISORDERSDOPAMINE TRANSPORTER GENEASSOCIATION10058 Department of Child and Adolescent PsychiatryEuropePsychiatry and Mental healthFemalePsychologyChromosomes Human Pair 9linkageFunctional Neurogenomics [DCN 2]GenotypeDEFICIT HYPERACTIVITY DISORDER610 Medicine & healthPolymorphism Single NucleotideMental health [NCEBP 9]Genetic determinismWhite PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]Genetic linkage1312 Molecular BiologymedicineSNPAttention deficit hyperactivity disorderHumansADHDSiblingMolecular Biology030304 developmental biologyLinkage (software)SiblingsChromosomemedicine.diseaseSib pairsUnited Statesaffected sib pairsGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityCONDUCT DISORDERLod ScoreDISEQUILIBRIUM030217 neurology & neurosurgeryChromosomes Human Pair 16
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Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

2009

Miglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder characterized by progressive neurological deterioration. We report findings from a retrospective observational cohort study assessing the effects of miglustat on neurological disease progression in patients treated in the clinical practice setting. Data from all NP-C patients prescribed miglustat at 25 expert centers were evaluated using a disease disability scale. The scale analyzed four key parameters of neurological disease progression in NP-C (ambulation, manipulation, language, swallowing). Mean individual parameter scores and a co…

MalePediatricsmedicine.medical_specialty1-Deoxynojirimycin1303 BiochemistryAdolescentEndocrinology Diabetes and Metabolism610 Medicine & healthDiseaseBiochemistryCohort StudiesEndocrinology1311 GeneticsMiglustat1312 Molecular BiologyGeneticsHumansMedicineEnzyme InhibitorsChildMolecular BiologyRetrospective StudiesNiemann–Pick disease type Cbusiness.industryNiemann-Pick Disease Type CRetrospective cohort studymedicine.disease1310 EndocrinologyClinical trial2712 Endocrinology Diabetes and MetabolismTreatment Outcome10036 Medical ClinicCohortFemalebusinessNiemann–Pick diseaseCohort studymedicine.drugMolecular Genetics and Metabolism
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Androglobin: a chimeric globin in metazoans that is preferentially expressed in mammalian testes

2012

Abstract: Comparative genomic studies have led to the recent identification of several novel globin types in the Metazoa. They have revealed a surprising evolutionary diversity of functions beyond the familiar O2 supply roles of hemoglobin and myoglobin. Here we report the discovery of a hitherto unrecognized family of proteins with a unique modular architecture, possessing an N-terminal calpain-like domain, an internal, circular permuted globin domain, and an IQ calmodulin-binding motif. Putative orthologs are present in the genomes of many metazoan taxa, including vertebrates. The calpain-like region is homologous to the catalytic domain II of the large subunit of human calpain-7. The glo…

MaleProtein subunitAmino Acid MotifsMolecular Sequence DataProtein domain610 Medicine & healthBiologyGenome10052 Institute of PhysiologyEvolution MolecularMice03 medical and health scienceschemistry.chemical_compound0302 clinical medicine1311 GeneticsTestisGene expressionGenetics1312 Molecular BiologyAnimalsHumansGene familyAmino Acid SequenceGlobinBiologyMolecular BiologyGenePhylogenyEcology Evolution Behavior and Systematics030304 developmental biologyGenetics0303 health sciencesCalpainRecombinant ProteinsGlobinsProtein Structure TertiaryChemistry1105 Ecology Evolution Behavior and SystematicsMyoglobinchemistryMultigene Family10076 Center for Integrative Human Physiology570 Life sciences; biologyCalmodulin-Binding ProteinsHuman medicineSequence Alignment030217 neurology & neurosurgeryResearch Article
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