2022
Network Tau spreading is vulnerable to the expression gradients of APOE and glutamatergic-related genes
Montal V, Diez I, Kim C, Orwig W, Bueichekú E, Gutiérrez-Zúñiga R, Bejanin A, Pegueroles J, Dols-Icardo O, Vannini P, El-Fakhri G, Johnson K, Sperling R, Fortea J, Sepulcre J. Network Tau spreading is vulnerable to the expression gradients of APOE and glutamatergic-related genes. Science Translational Medicine 2022, 14: eabn7273. PMID: 35895837, PMCID: PMC9942690, DOI: 10.1126/scitranslmed.abn7273.Peer-Reviewed Original ResearchConceptsTau spreadingIntracellular accumulation of tau proteinAccumulation of tau proteinAlzheimer's diseasePathological tau accumulationGenetic gradientGenetic dataTau proteinNeurofibrillary tanglesSynaptic genesTau accumulationGenetic traitsGenesDrug development strategiesExpression gradientIntracellular accumulationTauExpressionCognitively normal older participantsHuman brain cortexTanglesProteinApoTraitsAlzheimer
2021
Divergent connectomic organization delineates genetic evolutionary traits in the human brain
Bueichekú E, Gonzalez-de-Echavarri J, Ortiz-Teran L, Montal V, d’Oleire Uquillas F, De Marcos L, Orwig W, Kim C, Ortiz-Teran E, Basaia S, Diez I, Sepulcre J. Divergent connectomic organization delineates genetic evolutionary traits in the human brain. Scientific Reports 2021, 11: 19692. PMID: 34608211, PMCID: PMC8490416, DOI: 10.1038/s41598-021-99082-6.Peer-Reviewed Original ResearchConceptsEvolutionary traitsHomo sapiens lineageDN/dS ratiosPositive selectionCellular functionsEvolutionary pathwaysGene expressionGenetic expressionSapiens lineageBiological dataCo-localizationDivergent pathwaysFunctional specializationTraitsBiological qualityResting-state dataPathwayHuman brain functionSimian ancestorsExpressionConnectome organizationCognitive trajectoriesAncestorLineagesBrain functionUnveiling the neuroimaging-genetic intersections in the human brain
Diez I, Sepulcre J. Unveiling the neuroimaging-genetic intersections in the human brain. Current Opinion In Neurology 2021, 34: 480-487. PMID: 34227572, PMCID: PMC8265485, DOI: 10.1097/wco.0000000000000952.Peer-Reviewed Original ResearchConceptsSingle-cell transcriptomic dataExpression of genesFunctional annotationGenetic networksGenetic dataTranscriptome dataTranscriptomic datasetsBrain genesGenesBrain phenotypesBrain expressionBiological mechanismsNeuroimaging workNeuroimaging mapsBrain-wideNeuroimaging findingsLife spanExpressionTranscriptomeHuman brainNeuroimaging