2022
Mitochondrial dysfunction induces ALK5-SMAD2-mediated hypovascularization and arteriovenous malformations in mouse retinas
Zhang H, Li B, Huang Q, López-Giráldez F, Tanaka Y, Lin Q, Mehta S, Wang G, Graham M, Liu X, Park I, Eichmann A, Min W, Zhou J. Mitochondrial dysfunction induces ALK5-SMAD2-mediated hypovascularization and arteriovenous malformations in mouse retinas. Nature Communications 2022, 13: 7637. PMID: 36496409, PMCID: PMC9741628, DOI: 10.1038/s41467-022-35262-w.Peer-Reviewed Original ResearchConceptsMitochondrial dysfunctionThioredoxin 2Single-cell RNA-seq analysisRNA-seq analysisMutant miceNuclear genesMitochondrial proteinsMitochondrial localizationHuman retinal diseasesTranscriptional factorsGene expressionMutant retinasMitochondrial activityExtracellular matrixNovel mechanismVascular maturationArteriovenous malformationsGenetic deficiencyVessel growthSmad2Mouse retinaVascular malformationsMechanistic studiesBasement membraneRetinal vascular malformations
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