Search results for "Ranvier's Nodes"

showing 2 items of 2 documents

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

2019

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.

Male[SDV]Life Sciences [q-bio][SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyNerve Fibers MyelinatedGene FrequencyNeurodevelopmental Disorder[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]Nerve Growth FactorProtein IsoformsChildComputingMilieux_MISCELLANEOUSMyelin Sheathneurofascin; neurodevelopment; peripheral demyelinationAlleleneurodevelopmentDemyelinating DiseaseGenomicsneurodevelopment neurofascin peripheral demyelinationSettore MED/39 - Neuropsichiatria InfantilePedigree[SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunologyChild PreschoolPeripheral Nerve[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Femaleneurodevelopment; neurofascin; peripheral demyelinationNeurogliaHumanAdultAdolescentNervous System MalformationsGuillain-Barre SyndromeAxonNervous System MalformationneurofascinRanvier's NodesHumansNerve Growth FactorsPeripheral NervesAllelesAutoantibodiesperipheral demyelinationInfantProtein IsoformOriginal ArticlesAxonsnervous systemNeurodevelopmental DisordersCell Adhesion MoleculeMutationCell Adhesion MoleculesDemyelinating Diseases
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The cost of an action potential.

2000

Neuronal modules, or 'cell-assemblies', comprising millions of mutually interconnected cells have been postulated to form the basis of many functions of the brain, such as mood, sleep, hunger, vigilance, and more. Depending on the extent of the module, neurocommunication in cell-assemblies might exceed metabolic resources. A medium-size (10000 neurons) module would require at least 10 J per l of brain, based on a calculated cost of an isolated action potential (AP) of 10(11)-10(12) molecules of ATP per cm(2) of cell membrane, with an absolute minimum of 10(6) ATP at a node of Ranvier. The figure matches the cost of depolarizing the unmyelinated axon of the large monopolar cell in the blowfl…

Metabolic energyNode of RanvierGeneral NeuroscienceCell MembraneModels NeurologicalAction PotentialsDepolarizationIon PumpsNeurotransmissionBiologySynaptic TransmissionAxonsCell membraneElectrophysiologymedicine.anatomical_structureRanvier's NodesmedicineAnimalsHumansAxonNerve NetEnergy MetabolismNeuroscienceIntracellularJournal of neuroscience methods
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