2013
MeCP2 Regulates the Synaptic Expression of a Dysbindin-BLOC-1 Network Component in Mouse Brain and Human Induced Pluripotent Stem Cell-Derived Neurons
Larimore J, Ryder PV, Kim KY, Ambrose LA, Chapleau C, Calfa G, Gross C, Bassell GJ, Pozzo-Miller L, Smith Y, Talbot K, Park IH, Faundez V. MeCP2 Regulates the Synaptic Expression of a Dysbindin-BLOC-1 Network Component in Mouse Brain and Human Induced Pluripotent Stem Cell-Derived Neurons. PLOS ONE 2013, 8: e65069. PMID: 23750231, PMCID: PMC3672180, DOI: 10.1371/journal.pone.0065069.Peer-Reviewed Original ResearchConceptsMutant miceRett syndrome patientsBDNF contentDeficient miceSyndrome patientsInduced pluripotent stem cell-derived neuronsHuman Induced Pluripotent Stem Cell-Derived NeuronsPluripotent stem cell-derived neuronsStem cell-derived neuronsAutism spectrum disorderNormal human hippocampusCell-derived neuronsHuman inducible pluripotent stem cellsAsymmetric synapsesQuantitative real-time PCRHippocampal samplesReal-time PCRMouse hippocampusHuman neuronsPathogenic mechanismsQuantitative qRT-PCRQuantitative immunohistochemistryExpression of componentsSynaptic expressionInducible pluripotent stem cells
2012
Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability
Bilican B, Serio A, Barmada SJ, Nishimura AL, Sullivan GJ, Carrasco M, Phatnani HP, Puddifoot CA, Story D, Fletcher J, Park IH, Friedman BA, Daley GQ, Wyllie DJ, Hardingham GE, Wilmut I, Finkbeiner S, Maniatis T, Shaw CE, Chandran S. Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 5803-5808. PMID: 22451909, PMCID: PMC3326463, DOI: 10.1073/pnas.1202922109.Peer-Reviewed Original ResearchConceptsAmyotrophic lateral sclerosisTDP-43 proteinopathyTDP-43Human neuronsTransactive response DNA binding proteinFrontotemporal lobar degenerationFamilial amyotrophic lateral sclerosisFunctional motor neuronsCell-specific vulnerabilityTDP-43 proteinDNA binding proteinPI3K pathwayCell-autonomous phenotypeMotor neuronsLateral sclerosisStem cell linesPluripotent stem cellsGeneration of iPSCsIdentification of mutationsPluripotent stem cell lineMutant neuronsNeuronsK pathwayElevated levelsDisease mechanisms