2013
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 3489-3494. PMID: 23359680, PMCID: PMC3587195, DOI: 10.1073/pnas.1222732110.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge of OnsetAmino Acid SequenceBase SequenceChild, PreschoolExomeFemaleGenes, RecessiveHomozygoteHumansHydrolysisMaleModels, MolecularMolecular Sequence DataMutation, MissenseNerve DegenerationNeuronsPedigreeProtein BindingSequence Analysis, DNASubstrate SpecificitySyndromeThermodynamicsUbiquitinUbiquitin ThiolesteraseConceptsUbiquitin C-terminal hydrolase L1Upper motor neuron dysfunctionMotor neuron dysfunctionProgressive neurodegenerative syndromeEarly-onset progressive neurodegenerationChildhood-onset blindnessWhole-exome sequencingNeuron dysfunctionHomozygous missense mutationIndex caseNervous systemProgressive neurodegenerationNeurodegenerative syndromeCerebellar ataxiaHydrolase activityNear complete lossComplete lossAffected individualsConsanguineous unionsMissense mutationsRecessive lossHomozygosity mappingProper positioningReduced affinitySpasticity
2008
Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome
Stillman AA, Krsnik Ž, Sun J, Rašin M, State MW, šestan N, Louvi A. Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome. The Journal Of Comparative Neurology 2008, 513: 21-37. PMID: 19105198, PMCID: PMC3292218, DOI: 10.1002/cne.21919.Peer-Reviewed Original ResearchConceptsCorticostriatal-thalamocortical circuitsSingle-pass transmembrane proteinTourette syndromeEtiology of TSRare sequence variantsTransmembrane proteinSLITRK1Expression patternsCortical pyramidal neuronsCytoplasmic vesiclesDevelopmental expressionMember 1 geneSequence variantsAxonal repulsionSlit familyDendritic patterningDirect output pathwayCholinergic interneuronsPyramidal neuronsProjection neuronsStriatal expressionMotor ticsSomatodendritic compartmentDevelopmental neuropsychiatric disordersPatch compartment
2006
Notch signalling in vertebrate neural development
Louvi A, Artavanis-Tsakonas S. Notch signalling in vertebrate neural development. Nature Reviews Neuroscience 2006, 7: 93-102. PMID: 16429119, DOI: 10.1038/nrn1847.Peer-Reviewed Original Research
2005
CCM2 Expression Parallels That of CCM1
Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M. CCM2 Expression Parallels That of CCM1. Stroke 2005, 37: 518-523. PMID: 16373645, DOI: 10.1161/01.str.0000198835.49387.25.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlotting, WesternBrainCarrier ProteinsCells, CulturedCentral Nervous SystemCerebral CortexChlorocebus aethiopsCOS CellsEndothelium, VascularHumansImmunohistochemistryIn Situ HybridizationKRIT1 ProteinMiceMicrotubule-Associated ProteinsMuscle, SmoothMutationNeuronsPhenotypeProto-Oncogene ProteinsRNA, MessengerSignal TransductionTime FactorsTwo-Hybrid System TechniquesUmbilical VeinsConceptsCerebral cavernous malformationsProtein expressionExtracerebral tissuesFamilial cerebral cavernous malformationsArterial vascular endotheliumPostnatal mouse brainSmooth muscle cellsVascular wall elementsWestern blot analysisExpression patternsPyramidal neuronsVenous circulationCerebral tissueNeurovascular diseasesCavernous malformationsImmunohistochemical analysisVascular endotheliumMouse brainMRNA expressionMuscle cellsFoot processesEpithelial cellsExpression parallelsDisease phenotypeSpatial expression patternsWNK3 modulates transport of Cl- in and out of cells: Implications for control of cell volume and neuronal excitability
Kahle KT, Rinehart J, de los Heros P, Louvi A, Meade P, Vazquez N, Hebert SC, Gamba G, Gimenez I, Lifton RP. WNK3 modulates transport of Cl- in and out of cells: Implications for control of cell volume and neuronal excitability. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 16783-16788. PMID: 16275911, PMCID: PMC1283843, DOI: 10.1073/pnas.0508307102.Peer-Reviewed Original ResearchConceptsReticular activating systemCl- influxAltered phosphorylationCerebral cortexResponsive neuronsGABA neurotransmissionNeuronal excitabilityK-Cl cotransporterOpposite effectActivating systemCotransporter NKCC1Intracellular ClCl- effluxNKCC1Surface expressionKCC2Cell volumeExcitabilityNeuronsDownstream targetsWNK3Sensitive kinasesXenopus oocytesIntracellular volumeIon cotransporters
2004
Presenilin 1 in migration and morphogenesis in the central nervous system
Louvi A, Sisodia SS, Grove EA. Presenilin 1 in migration and morphogenesis in the central nervous system. Development 2004, 131: 3093-3105. PMID: 15163631, DOI: 10.1242/dev.01191.Peer-Reviewed Original ResearchMeSH KeywordsAmyloid Precursor Protein SecretasesAnimalsAspartic Acid EndopeptidasesBrainBrain StemBromodeoxyuridineCell DifferentiationCell DivisionCell MovementCentral Nervous SystemCerebellumColoring AgentsCyclin-Dependent Kinase 5Cyclin-Dependent KinasesCytoskeletonDopamine AgentsEndopeptidasesGene Expression Regulation, DevelopmentalHomozygoteImmunohistochemistryIn Situ HybridizationLightMembrane ProteinsMiceMutationNeuronsPresenilin-1Time FactorsConceptsCentral nervous systemNervous systemPresenilin 1Premature neuronal differentiationCNS morphogenesisCerebral cortexCortical dysplasiaCortical laminationExternal granule layerPontine nucleiPresenilin-1 functionCerebellar granule cell precursorsFacial branchiomotor nucleusTangential migratory pathwayCaudal midbrainGranule cell precursorsNeuronal cellsBrain developmentNeuronal migrationTangential migrationBranchiomotor nucleiCell precursorsNeuronal differentiationGranule layerMidline fusion