2021
Microglia regulate brain Progranulin levels through the endocytosis-lysosomal pathway
Dong T, Tejwani L, Jung Y, Kokubu H, Luttik K, Driessen TM, Lim J. Microglia regulate brain Progranulin levels through the endocytosis-lysosomal pathway. JCI Insight 2021, 6: e136147. PMID: 34618685, PMCID: PMC8663778, DOI: 10.1172/jci.insight.136147.Peer-Reviewed Original ResearchConceptsPGRN levelsNovel potential therapeutic targetFrontotemporal lobar degenerationPotential therapeutic targetNeuronal ceroid lipofuscinosisPGRN deficiencyPGRN expressionLysosomal pathwayProgranulin levelsPathological changesHaploinsufficient miceTherapeutic targetMicrogliaNeuropathological phenotypeAlzheimer's diseaseProgranulinCeroid lipofuscinosisGlycoprotein progranulinNeurodegenerative diseasesDiseaseMiceGenetic alterationsNemo-like kinaseGenetic interaction studiesGenetic variants
2017
Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation
Thomas CA, Tejwani L, Trujillo CA, Negraes PD, Herai RH, Mesci P, Macia A, Crow YJ, Muotri AR. Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation. Cell Stem Cell 2017, 21: 319-331.e8. PMID: 28803918, PMCID: PMC5591075, DOI: 10.1016/j.stem.2017.07.009.Peer-Reviewed Original ResearchMeSH KeywordsAstrocytesAutoimmune DiseasesBase SequenceCell ExtractsChildCytosolDNAExodeoxyribonucleasesHumansInfantInfant, NewbornInflammationInterferonsLong Interspersed Nucleotide ElementsMaleMicrocephalyNervous SystemNeural Stem CellsNeuronsOrganoidsPhenotypePhosphoproteinsStem CellsUp-RegulationConceptsThree-prime repair exonuclease 1Aicardi-Goutières syndromeAutoimmune diseasesSource of neuroinflammationType I interferon secretionSystemic lupus erythematosusRepair exonuclease 1Reverse transcriptase inhibitorStem cellsDisease-relevant phenotypesNeuroinflammatory disordersLupus erythematosusTherapeutic regimensCortical organoidsInflammatory responseInterferon secretionRelated disordersObserved neurotoxicityNeural cellsNeurotoxicityDiseaseNeuronsPluripotent stem cellsDisordersHuman stem cells