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 cellsActivity of Retrotransposons in Stem Cells and Differentiated Cells
Macia A, Tejwani L, Mesci P, Muotri A, Garcia-Perez J. Activity of Retrotransposons in Stem Cells and Differentiated Cells. 2017, 127-156. DOI: 10.1007/978-3-319-48344-3_6.Peer-Reviewed Original ResearchTransposable elementsSelfish DNAHuman genomeTE insertionsEarly embryonic developmental stagesActivity of TEsActivity of retrotransposonsActivity of L1New TE insertionsEmbryonic developmental stagesHuman transposable elementsMammalian genomesGenome stabilityEukaryotic genomesNew genesGenomic regulationGenomic rearrangementsGenomeLINE-1sDifferentiated cellsGerm cellsDevelopmental stagesMobile elementsNew copiesStem cells
2016
Genome Editing in Stem Cells
Tejwani L, Trujillo C, Thomas C, Muotri A. Genome Editing in Stem Cells. 2016, 287-309. DOI: 10.1007/978-3-319-30582-0_17.Peer-Reviewed Original ResearchGenome editingCRISPR/Cas9 systemPost-transcriptional levelPotential genetic therapyWild-type formStudy of geneticsGene functionGenetic functionsHuman genomeDeleterious mutationsParticular genesReverse geneticsCRISPR/Cas9 systemCellular phenomenaGenomeMolecular biologyCellular levelStem cellsEase of programmabilityMonogenic diseasesGenesEditingGeneticsSpecific modifications