Search results for "synaptic vesicle"

showing 10 items of 52 documents

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

2019

Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in…

MaleModels Molecular0301 basic medicineProtein ConformationAmino Acid Motifsalpha-TocopherolMutantCrystallography X-RayPHENOTYPECompound heterozygosityAntioxidantsAnimals Genetically ModifiedEpilepsy0302 clinical medicineCatalytic DomainDrosophila ProteinsMissense mutationoxidative stressChildTLDC DOMAINVITAMIN-EExome sequencingSequence DeletionNeuronsDystoniaGeneticsexercise-induced dystoniaTBC1D24GTPase-Activating ProteinsANNOTATIONSEpilepsy RolandicPhenotypeRecombinant ProteinsPedigree3. Good healthRolandic epilepsyDystoniaDrosophila melanogasterChild PreschoolFemaleSettore MED/26 - NeurologiaSynaptic VesiclesDrosophila melanogasterPROTEIN STABILITYLife Sciences & BiomedicineLocomotionAdolescentPhysical ExertionMutation MissenseClinical NeurologyPREDICTIONSBiology03 medical and health sciencesmedicineAnimalsHumansAmino Acid SequenceCOMPARTMENToxidative streScience & TechnologySequence Homology Amino AcidMUTATIONSNeurosciencesInfantBiological TransportDEGRADATIONmedicine.diseasebiology.organism_classificationAcetylcysteineDisease Models AnimalOxidative Stress030104 developmental biologyrab GTP-Binding ProteinsSEIZURESNeurosciences & NeurologyNeurology (clinical)Reactive Oxygen SpeciesSequence Alignment030217 neurology & neurosurgery
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Strain differences in the ratio of synaptic body types in photoreceptors of the rat retina.

1993

In the retinal outer plexiform layer of seven different rat strains, synaptic bodies (SB) were counted and, according to their morphology, characterized as synaptic ribbons (SR), synaptic spheres (SS) or intermediate structures. It was found that absolute SB numbers showed relatively small variations while SR/SS ratios differed considerably between the strains investigated. These results are discussed with respect to retinal pigmentation and to formation and degradation, respectively, of synaptic ribbons.

MaleMorphology (linguistics)Outer plexiform layerlaw.inventionSynapsechemistry.chemical_compoundSpecies SpecificitylawmedicineAnimalsPhotoreceptor CellsSynaptic ribbonRetinaStrain (chemistry)PigmentationRetinalRats Inbred StrainsSensory SystemsRatsOphthalmologyMicroscopy Electronmedicine.anatomical_structurechemistryBiophysicsFemalesense organsSynaptic VesiclesElectron microscopeNeuroscienceVision research
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Axonal pathology of the skin in infantile neuroaxonal dystrophy.

1987

Ultrastructural studies on the skin of two patients affected by infantile neuroaxonal dystrophy (INAD) were performed to evaluate its diagnostic value and to discuss the etiology of INAD. While the majority of terminal axons around intradermal glands were dystophic consisting of tubulomembranous and tubulovesicular profiles sometimes accompanied by synaptic vesicles, there were only few dystophic axons inside intradermal nerve bundles. These observations suggest that the primary lesion of INAD is located in terminal and presynaptic axons. Therefore, terminal axons have to be investigated when a diagnostic skin biopsy is performed in INAD.

MalePathologymedicine.medical_specialtyAxonal pathologySynaptic vesiclePathology and Forensic MedicineInfantile neuroaxonal dystrophyCellular and Molecular NeurosciencemedicineHumansAxonNeuroaxonal dystrophySkinmedicine.diagnostic_testbusiness.industryLeukodystrophyInfantAnatomyPrimary lesionmedicine.diseaseAxonsSweat Glandsmedicine.anatomical_structurenervous systemChild PreschoolSkin biopsyFemaleNeurology (clinical)Nervous System DiseasesbusinessActa neuropathologica
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Synaptic vesicle alterations in rod photoreceptors of synaptophysin-deficient mice.

2001

Abstract The abundance of the integral membrane protein synaptophysin in synaptic vesicles and its multiple possible functional contributions to transmitter exocytosis and synaptic vesicle formation stand in sharp contrast to the observed lack of defects in synaptophysin knockout mice. Assuming that deficiencies are compensated by the often coexpressed synaptophysin isoform synaptoporin, we now show that retinal rod photoreceptors, which do not synthesize synaptoporin either in wild-type or in knockout mice, are affected by the loss of synaptophysin. Multiple pale-appearing photoreceptors, as seen by electron microscopy, possess reduced cytoplasmic electron density, swollen mitochondria, an…

MalePresynaptic TerminalsSynaptophysinAction PotentialsFluorescent Antibody TechniqueDark AdaptationBiologyRibbon synapseSynaptic vesicleSynaptic TransmissionExocytosisExocytosisMiceRetinal Rod Photoreceptor CellsElectroretinographySynaptic vesicle recyclingAnimalsMice KnockoutSex CharacteristicsGeneral NeuroscienceVesicleMembrane ProteinsClathrin-Coated VesiclesSynaptoporinCell biologyMice Inbred C57BLMicroscopy ElectronProtein TransportKnockout mouseSynaptophysinbiology.proteinFemaleSynaptic VesiclesNeurosciencePhotic StimulationNeuroscience
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Effect of chronic citalopram on serotonin-related and stress-regulated genes in the dorsal raphe nucleus of the rat

2007

Using a model of depression in which chronic social stress induces depressive-like symptoms, we investigated effects of the selective serotonin-reuptake inhibitor (SSRI) citalopram on gene expression in the dorsal raphe nucleus of male rats. Expression of tryptophan hydroxylase (TPH) protein was found to be upregulated by the stress and normalized by citalopram, while mRNAs for genes TPH 1 and 2 were differentially affected. Citalopram had no effect on serotonin transporter mRNA but reduced serotonin-1A autoreceptor mRNA in stressed animals. The SSRI prevented the stress-induced upregulation of mRNA for CREB binding protein, synaptic vesicle glycoprotein 2b and the glial N-myc downstream-re…

MaleSerotoninendocrine systemmedicine.medical_specialtyCitalopramTryptophan HydroxylaseBiologyCitalopramPolymerase Chain Reactionbehavioral disciplines and activitiesGene Expression Regulation Enzymologic03 medical and health scienceschemistry.chemical_compound0302 clinical medicineDorsal raphe nucleusStress PhysiologicalInternal medicinemental disordersmedicineAnimalsPharmacology (medical)Rats WistarSocial BehaviorNeurotransmitterBiological PsychiatrySerotonin transporter030304 developmental biologyPharmacology0303 health sciencesTryptophan hydroxylaseRatsPsychiatry and Mental healthEndocrinologyNeurologychemistryModels Animalbiology.proteinSynaptic vesicle glycoprotein 2BRNARaphe Nuclei5-HT1A receptorNeurology (clinical)SerotoninSelective Serotonin Reuptake Inhibitors030217 neurology & neurosurgerymedicine.drugEuropean Neuropsychopharmacology
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Mouse photoreceptor synaptic ribbons lose and regain material in response to illumination changes

2004

Abstract Chemical synapses equipped with ribbons are tonically active, high-output synapses. The ribbons may play a role in the trafficking of synaptic vesicles. Recent findings in retinal rod cells of BALB/c mice indicate that ribbons are large and smooth in the dark phase, and, due to the formation and release of protrusions, small during the light phase. As a consequence of these changes, ribbons may traffick fewer vesicles in the light than in the dark phases. The aim of the present study was to find out whether the above ribbon changes in this mouse strain are strictly illumination-dependent and which signalling processes may be involved. Here, we show that ribbons form protrusions and…

MaleTime FactorsLightRibbon diagramDark AdaptationBiologyRibbon synapseModels BiologicalSynaptic vesicleRetinaPhotoreceptor cellCalcium ChlorideMiceOrgan Culture TechniquesmedicineAnimalsDrug InteractionsPhotoreceptor CellsCyclic GMPEgtazic AcidCalcimycinLightingChelating AgentsMelatoninSynaptic ribbonMice Inbred BALB CRetinaIonophoresGeneral NeurosciencefungiDarknessThionucleotidesCircadian Rhythmbody regionsMicroscopy Electronmedicine.anatomical_structurenervous systemSynapsesSynaptic plasticityBiophysicssense organsNeurosciencePhotic StimulationVisual phototransductionEuropean Journal of Neuroscience
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Ultrastructural observations on the central innervation of the guinea-pig pineal gland.

1981

In the present study the central innervation of the guinea-pig pineal gland was investigated. The habenulae and the pineal stalk contain myelinated and non-myelinated nerve fibres with few dense-cored and electron-lucent vesicles. Some myelinated fibres leave the main nerve fibre bundles, lose their myelin-sheaths and terminate in the pineal gland. Although direct proof is lacking, the non-myelinated fibres appear to end near the site where the bulk of the myelinated fibres are located. Here a neuropil area exists where synapses between non-myelinated fibre elements are abundant. Neurosecretory fibres were also seen. The results support the concept of functional interrelationships between h…

Maleendocrine systemCytoplasmHistologyGuinea PigsBiologySynaptic vesicleNerve Fibers MyelinatedPineal GlandPathology and Forensic MedicineGuinea pigPineal glandNerve FibersEpendymamedicineNeuropilEpithalamusAnimalsCell NucleusCell BiologyAnatomyMicroscopy Electronmedicine.anatomical_structurenervous systemHypothalamusSynapsesUltrastructureSynaptic VesiclesEpendymahormones hormone substitutes and hormone antagonistsCell and tissue research
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In vitro effects of putative neurotransmitters on synaptic ribbon numbers and N-acetyltransferase activity in the rat pineal gland

1992

The pineal contains a large number of classical transmitters and neuropeptides. Some of these neurochemicals are involved in the regulation of serotonin N-acetyltransferase (NAT) activity and hence in melatonin synthesis. Synaptic ribbons present in the pineal gland also exhibit a numerical day/night rhythm parallel to that of NAT activity. There is scarcity of information regarding the regulation of synaptic ribbon (SR) numbers. In the present study, we have investigated in vitro effects of a number of classical neurotransmitters and neuropeptides. NAT activity was used to monitor melatonin synthesis under the experimental conditions used. Norepinephrine (NE), Delta sleep-inducing peptide …

Maleendocrine systemmedicine.medical_specialtyArylamine N-AcetyltransferaseVasoactive intestinal peptideNeuropeptideBiologyPineal Glandgamma-Aminobutyric acidRats Sprague-DawleyPineal glandOrgan Culture TechniquesInternal medicinemedicineAnimalsBiological PsychiatrySynaptic ribbonNeurotransmitter AgentsfungiCircadian RhythmRatsbody regionsMicroscopy ElectronPsychiatry and Mental healthmedicine.anatomical_structureEndocrinologySomatostatinNeurologySynaptic VesiclesNeurology (clinical)Serotoninhormones hormone substitutes and hormone antagonistsmedicine.drugEndocrine glandJournal of Neural Transmission
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"Synaptic" ribbons and spherules of the rat pineal gland: day/night changes in vitro?

1982

In the present study pineal glands of rats aged 69–71 days were studied in vivo and in vitro with respect to day/night changes of “synaptic” ribbons and spherules. It was found that ribbons outnumber spherules by a factor of 3. In vivo, both ribbons and spherules show a roughly 3-fold increase in number at 1 a.m. when compared to 1 p.m. Up to 39 h in vitro, the two structures in question did not reveal day/night differences in amount, suggesting that diurnal rhythmicity of the gland did apparently not persist in organ culture. After 3 h in organ culture, the spherules, but not the ribbons, showed a striking increase in number, showing that ribbons and spherules may be governed by different …

Malemedicine.medical_specialtyGeneral NeuroscienceSynaptic MembranesRats Inbred StrainsBiologyOrgan culturePineal GlandIn vitroCircadian RhythmRatsRat Pineal GlandPineal glandMicroscopy Electronmedicine.anatomical_structureEndocrinologynervous systemIn vivoInternal medicineSynapsesmedicineAnimalssense organsSynaptic VesiclesExperimental brain research
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Investigations on day-night differences of vesicle densities in synapses of the rat suprachiasmatic nucleus

1990

The present study was conducted to test whether the well-known circadian alterations in physiological and metabolical parameters of the hypothalamic suprachiasmatic nucleus (SCN) are accompanied by day-night differences in the number of vesicles in intrinsic synapses of the nucleus. Two groups of 5 adult male rats each were killed at mid-light or mid-dark, respectively, by perfusion with Karnovsky's fluid. The SCN were removed and processed for routine electron microscopy. In medial parts of the nucleus, synapses were characterized as being of Gray type I (asymmetrical), Gray type II (symmetrical) or of intermediate form, and the vesicles per synaptic profile (VPSP) were counted over a defi…

Malephotoperiodismmedicine.medical_specialtySuprachiasmatic nucleusGeneral NeuroscienceVesicleRats Inbred StrainsBiologySynaptic vesicleAxonsCircadian RhythmRatsSynapseMicroscopy ElectronEndocrinologymedicine.anatomical_structureHypothalamusInternal medicineSynapsesmedicineAnimalsSuprachiasmatic NucleusSynaptic VesiclesCircadian rhythmNucleusNeuroscience Letters
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