2018
Cerebrovascular disorders associated with genetic lesions
Karschnia P, Nishimura S, Louvi A. Cerebrovascular disorders associated with genetic lesions. Cellular And Molecular Life Sciences 2018, 76: 283-300. PMID: 30327838, PMCID: PMC6450555, DOI: 10.1007/s00018-018-2934-5.Peer-Reviewed Original ResearchConceptsCerebrovascular disordersGenetic lesionsCerebral blood flowRational therapeutic approachMolecular mechanismsCerebrovascular diseaseMechanistic understandingTherapeutic approachesBlood flowDisease pathogenesisSporadic formsGenomic findingsCurrent knowledgeGenetic formsDisordersLesionsBlood vessel structureWider implicationsPathogenesisAbnormalitiesDiseaseVessel structure
2011
Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease
Arboleda-Velasquez JF, Manent J, Lee JH, Tikka S, Ospina C, Vanderburg CR, Frosch MP, Rodríguez-Falcón M, Villen J, Gygi S, Lopera F, Kalimo H, Moskowitz MA, Ayata C, Louvi A, Artavanis-Tsakonas S. Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: e128-e135. PMID: 21555590, PMCID: PMC3102344, DOI: 10.1073/pnas.1101964108.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsArteriolesBrainCerebrovascular DisordersDisease Models, AnimalHumansIschemiaMiceMutation, MissenseReceptor, Notch3Receptors, NotchSignal TransductionTransgenesConceptsSmall vessel diseaseIschemic cerebral small-vessel diseaseCerebral small vessel diseaseGranular osmiophilic materialMouse modelCerebral autosomal dominant arteriopathySmooth muscle cell degenerationBrain vessel pathologyPrevalent human conditionVascular smooth muscle cellsNotch 3 mutationPostmortem human tissueAutosomal dominant arteriopathyTransgenic mouse modelIschemic stroke susceptibilityAge-dependent phenotypeMuscle cell degenerationSmooth muscle cellsNotch-3 receptorCommon monogenic causeIschemic strokeVascular dementiaSubcortical infarctsReceptor activity assaysHuman brain vessels