2021
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination
Omer S, Jin SC, Koumangoye R, Robert SM, Duran D, Nelson‐Williams C, Huttner A, DiLuna M, Kahle KT, Delpire E. Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination. Clinical Genetics 2021, 100: 176-186. PMID: 33904160, DOI: 10.1111/cge.13973.Peer-Reviewed Original ResearchConceptsProtein kinase D1Kainate-induced seizure activityHomozygote micePeripheral nerve diseaseWild-type miceBrain hyperexcitabilityPatient's epilepsyPeripheral neuropathyNerve diseaseSeizure activityHuman epilepsyCotransporter 3Nervous systemProgressive epilepsyHeterozygote miceHuman nervous systemPKD1 variantsMiceEpilepsyInactivating variantPotential targetSignificant increaseNovel roleDiseaseLocomotor behaviorNeuroinvasion of SARS-CoV-2 in human and mouse brain
Song E, Zhang C, Israelow B, Lu-Culligan A, Prado AV, Skriabine S, Lu P, Weizman OE, Liu F, Dai Y, Szigeti-Buck K, Yasumoto Y, Wang G, Castaldi C, Heltke J, Ng E, Wheeler J, Alfajaro MM, Levavasseur E, Fontes B, Ravindra NG, Van Dijk D, Mane S, Gunel M, Ring A, Kazmi SAJ, Zhang K, Wilen CB, Horvath TL, Plu I, Haik S, Thomas JL, Louvi A, Farhadian SF, Huttner A, Seilhean D, Renier N, Bilguvar K, Iwasaki A. Neuroinvasion of SARS-CoV-2 in human and mouse brain. Journal Of Experimental Medicine 2021, 218: e20202135. PMID: 33433624, PMCID: PMC7808299, DOI: 10.1084/jem.20202135.Peer-Reviewed Original ResearchConceptsSARS-CoV-2Central nervous systemSARS-CoV-2 neuroinvasionImmune cell infiltratesCOVID-19 patientsType I interferon responseMultiple organ systemsCOVID-19I interferon responseHuman brain organoidsNeuroinvasive capacityCNS infectionsCell infiltrateNeuronal infectionPathological featuresCortical neuronsRespiratory diseaseDirect infectionCerebrospinal fluidNervous systemMouse brainInterferon responseOrgan systemsHuman ACE2Infection
2020
Primary melanotic tumors of the nervous system: a consecutive case series
Grosshans H, Huttner A, Piepmeier J, Kaulen L, Fulbright R, Baehring J, Karschnia P. Primary melanotic tumors of the nervous system: a consecutive case series. European Journal Of Neurology 2020, 27: 2303-2307. PMID: 32654331, DOI: 10.1111/ene.14437.Peer-Reviewed Original ResearchConceptsPrimary melanotic tumorsNervous systemRelapsed diseaseClinical presentationMelanotic lesionsFavorable outcomeRadiation therapyPre-contrast T1-weighted imagingRelative incidenceMelanotic tumorsHomogenous contrast enhancementYale Cancer CenterAggressive surgical treatmentConsecutive case seriesPsammomatous melanotic schwannomaNervous system tumorsT1-weighted imagingT2-weighted imagingTumor mass effectMagnetic resonance imagingMelanin-containing cellsS100 positivitySurgical resectionSurgical treatmentTumor Registry
2017
Antiviral CD8 T cells induce Zika-virus-associated paralysis in mice
Jurado KA, Yockey LJ, Wong PW, Lee S, Huttner AJ, Iwasaki A. Antiviral CD8 T cells induce Zika-virus-associated paralysis in mice. Nature Microbiology 2017, 3: 141-147. PMID: 29158604, PMCID: PMC5780207, DOI: 10.1038/s41564-017-0060-z.Peer-Reviewed Original ResearchConceptsCentral nervous systemZIKV infectionZika virusT cellsNeurological complicationsNervous systemBlood-brain barrier breakdownAntiviral CD8 T cellsHigh viral burdenIFNAR knockout miceCD8 T cellsEffector T cellsSusceptible mouse modelBlood-brain barrierNon-haematopoietic cellsSite of infectionIFNAR1 deficiencyViral burdenNeurological manifestationsGuillain-BarréBarrier breakdownMouse modelKnockout miceAstrocytes resultsAntiviral activitySurface chemistry governs cellular tropism of nanoparticles in the brain
Song E, Gaudin A, King AR, Seo YE, Suh HW, Deng Y, Cui J, Tietjen GT, Huttner A, Saltzman WM. Surface chemistry governs cellular tropism of nanoparticles in the brain. Nature Communications 2017, 8: 15322. PMID: 28524852, PMCID: PMC5454541, DOI: 10.1038/ncomms15322.Peer-Reviewed Original ResearchConceptsSurface chemistryDifferent surface chemistriesDrug deliveryNanoparticlesNanoparticle designChemistryTherapeutic efficacyAssociation rateFunctionalizationCentral nervous systemConvection-enhanced deliverySignificant uptakeBrain interstitiumOrthotopic modelNervous systemNeurological diseasesAdverse toxicityCellular tropismExtent of internalizationCellular depositionBrainCell populationsDepositionPropertiesGlioblastoma
2016
Molecular Neuropathology and the Ontogeny of Malignant Gliomas
Huttner A. Molecular Neuropathology and the Ontogeny of Malignant Gliomas. 2016, 15-29. DOI: 10.1007/978-3-319-49864-5_2.Peer-Reviewed Original Research
2014
B cells populating the multiple sclerosis brain mature in the draining cervical lymph nodes
Stern JN, Yaari G, Vander Heiden JA, Church G, Donahue WF, Hintzen RQ, Huttner AJ, Laman JD, Nagra RM, Nylander A, Pitt D, Ramanan S, Siddiqui BA, Vigneault F, Kleinstein SH, Hafler DA, O'Connor KC. B cells populating the multiple sclerosis brain mature in the draining cervical lymph nodes. Science Translational Medicine 2014, 6: 248ra107. PMID: 25100741, PMCID: PMC4388137, DOI: 10.1126/scitranslmed.3008879.Peer-Reviewed Original ResearchConceptsCervical lymph nodesCentral nervous systemB cellsCerebrospinal fluidLymph nodesMultiple sclerosisLymphoid tissueCNS of patientsCNS B cellsAntigen-experienced B cellsMultiple sclerosis brainSecondary lymphoid tissuesB cell compartmentB cell trafficB cell maturationImmunomodulatory therapyImmune infiltratesPeripheral bloodInflammatory diseasesLymphocyte transmigrationPeripheral tissuesNervous systemMembers of clonesCell maturationCell traffic
2010
Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1
Huttner AJ, Kieran MW, Yao X, Cruz L, Ladner J, Quayle K, Goumnerova LC, Irons MB, Ullrich NJ. Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatric Blood & Cancer 2010, 54: 890-896. PMID: 20310005, DOI: 10.1002/pbc.22462.Peer-Reviewed Original ResearchMeSH KeywordsBrain NeoplasmsChildChild, PreschoolDNA Modification MethylasesDNA Repair EnzymesErbB ReceptorsGene DosageGlioblastomaHumansImmunohistochemistryIn Situ HybridizationInfantKaplan-Meier EstimateMaleNeurofibromatosis 1PTEN PhosphohydrolaseRetrospective StudiesTumor Suppressor Protein p53Tumor Suppressor ProteinsConceptsNeurofibromatosis type 1Malignant tumorsType 1Median overall survivalLow-grade tumorsPeripheral nervous systemEpidermal growth factor receptor copy numberNon-NF1 patientsAdditional molecular studiesClinicopathologic studyOverall prognosisOverall survivalRetrospective reviewVascular proliferationPathologic indicatorsPatientsNervous systemTumors differsSame time periodGlioblastomaSmall sample sizeTumorsMethylguanine-DNA methyltransferase (MGMT) geneSurvivalChildren
1998
Chimeric brains generated by intraventricular transplantation of fetal human brain cells into embryonic rats
Brüstle O, Choudhary K, Karram K, Hüttner A, Murray K, Dubois-Dalcq M, McKay R. Chimeric brains generated by intraventricular transplantation of fetal human brain cells into embryonic rats. Nature Biotechnology 1998, 16: 1040-1044. PMID: 9831032, DOI: 10.1038/3481.Peer-Reviewed Original ResearchConceptsFetal human brain cellsCentral nervous systemHuman brain cellsBrain cellsNervous systemEmbryonic ratsNeural cell migrationIntraventricular transplantationCerebral ventricleNeural chimerasFunctional nervous systemChimeric brainsHuman neural developmentNeural developmentRatsCell migrationBrainCellsRodent cellsUnique modelHuman cellsTransplantationAstrocytesVentricleChimerism