2017
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly
Sgourdou P, Mishra-Gorur K, Saotome I, Henagariu O, Tuysuz B, Campos C, Ishigame K, Giannikou K, Quon JL, Sestan N, Caglayan AO, Gunel M, Louvi A. Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Scientific Reports 2017, 7: 43708. PMID: 28272472, PMCID: PMC5341122, DOI: 10.1038/srep43708.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAurora Kinase BBrainCell CycleCell Cycle ProteinsCell DifferentiationCell ProliferationCentrosomeConsanguinityDisease Models, AnimalEpistasis, GeneticFluorescent Antibody TechniqueGene ExpressionHumansInheritance PatternsMaleMiceMice, KnockoutMicrocephalyMutationNerve Tissue ProteinsNeural Stem CellsPedigreeWhole Genome SequencingConceptsChromosome passenger complexPatient-derived fibroblastsCentrosome inheritanceNeocortical progenitorsDisease-associated mutant formsSpindle pole localizationAurora kinase BPassenger complexMitotic progressionMouse orthologDiverse functionsMutant formsWD repeat domain 62Key regulatorCPC componentsKinase BPole localizationPrimary microcephalyLate neurogenesisRecessive mutationsNeuronal differentiationWDR62Severe brain malformationsReduced proliferationNeocortical development
2016
B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models
Shi C, Shenkar R, Zeineddine HA, Girard R, Fam MD, Austin C, Moore T, Lightle R, Zhang L, Wu M, Cao Y, Gunel M, Louvi A, Rorrer A, Gallione C, Marchuk DA, Awad IA. B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models. Journal Of Neuroimmune Pharmacology 2016, 11: 369-377. PMID: 27086141, PMCID: PMC6746226, DOI: 10.1007/s11481-016-9670-0.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsB-LymphocytesCentral Nervous System NeoplasmsDisease Models, AnimalFemaleHemangioma, Cavernous, Central Nervous SystemMaleMiceMice, TransgenicConceptsB-cell depletionCerebral cavernous malformationsCCM lesionsB cellsImmune responseMurine modelCavernous malformationsIron depositionB cell clonal expansionInflammatory cell infiltrationStage 2 lesionsProgression of lesionsBlood degradation productsCommon vascular malformationsPotential therapeutic agentROCK activityRho-kinase activityUntreated miceAntigenic triggerCell depletionCell infiltrationVascular malformationsImmune complexesTherapeutic benefitLesion genesis
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 ResearchConceptsSmall 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
2008
Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1
Shibazaki S, Yu Z, Nishio S, Tian X, Thomson RB, Mitobe M, Louvi A, Velazquez H, Ishibe S, Cantley LG, Igarashi P, Somlo S. Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1. Human Molecular Genetics 2008, 17: 1505-1516. PMID: 18263604, PMCID: PMC2902289, DOI: 10.1093/hmg/ddn039.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisButadienesCell ProliferationCystsDisease Models, AnimalEnzyme ActivationKidneyMAP Kinase Kinase 1MAP Kinase Kinase 2MiceMice, Mutant StrainsMitogen-Activated Protein Kinase 1Mitogen-Activated Protein Kinase 3NitrilesPolycystic Kidney, Autosomal DominantProtein Kinase InhibitorsTRPP Cation ChannelsConceptsCyst formationERK1/2 activationPostnatal day 21Renal cystic diseaseWeeks of birthCyst cell proliferationPolycystic kidney diseaseKinase pathwayKidney tubule cellsKidney-specific inactivationRenal failureMEK1/2 inhibitor U0126Kidney diseaseCystic diseaseMAPK/ERKMAPK/ERK activationPresence of ciliaProliferative indexCyst growthCyst expansionDay 21Tubule cellsBrdU uptakeCystic kidneysBromodeoxyuridine incorporation
2006
CADASIL: A Critical Look at a Notch Disease
Louvi A, Arboleda-Velasquez JF, Artavanis-Tsakonas S. CADASIL: A Critical Look at a Notch Disease. Developmental Neuroscience 2006, 28: 5-12. PMID: 16508299, DOI: 10.1159/000090748.Peer-Reviewed Original Research